Canonical Allele Identifier: CA4650946
Community Standard Title: NM_177924.5(ASAH1):c.261C>T (p.Phe87=)
Gene: ASAH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18069834G>A , CM000670.2:g.18069834G>A GRCh38
NC_000008.10:g.17927343G>A , CM000670.1:g.17927343G>A GRCh37
NC_000008.9:g.17971623G>A NCBI36
NG_008985.1:g.20165C>T
NG_008985.2:g.20165C>T

Transcript Alleles

HGVS Amino-acid Change
NM_177924.5:c.261C>T MANE Select NP_808592.2:p.Phe87=
ENST00000637790.2:c.261C>T MANE Select ENSP00000490272.1:p.Phe87=
NM_001127505.1:c.285+1466C>T NP_001120977.1:n.285+1466C>T
NM_001127505.2:c.285+1466C>T NP_001120977.1:n.285+1466C>T
NM_001127505.3:c.285+1466C>T NP_001120977.1:n.285+1466C>T
NM_001363743.1:c.66C>T NP_001350672.1:p.Phe22=
NM_001363743.2:c.66C>T NP_001350672.1:p.Phe22=
NM_004315.4:c.309C>T NP_004306.3:p.Phe103=
NM_004315.5:c.309C>T NP_004306.3:p.Phe103=
NM_004315.6:c.309C>T NP_004306.3:p.Phe103=
NM_177924.3:c.261C>T NP_808592.2:p.Phe87=
NM_177924.4:c.261C>T NP_808592.2:p.Phe87=
ENST00000262097.10:c.261C>T ENSP00000262097.6:p.Phe87=
ENST00000314146.10:c.285+1466C>T ENSP00000326970.10:n.285+1466C>T
ENST00000381733.8:c.309C>T ENSP00000371152.4:p.Phe103=
ENST00000381733.9:c.309C>T ENSP00000371152.4:p.Phe103=
ENST00000518087.6:n.309C>T
ENST00000518087.7:c.*97C>T ENSP00000490753.1:n.*97C>T
ENST00000519468.5:n.267C>T
ENST00000519545.5:n.275C>T
ENST00000519545.6:n.278C>T
ENST00000520781.5:c.261C>T ENSP00000427751.1:p.Phe87=
ENST00000520781.6:c.261C>T ENSP00000427751.1:p.Phe87=
ENST00000523593.5:n.157-2536C>T
ENST00000523593.6:c.*104C>T ENSP00000490700.1:n.*104C>T
ENST00000635769.1:c.282C>T ENSP00000490485.1:p.Phe94=
ENST00000635944.1:c.*97C>T ENSP00000490195.1:n.*97C>T
ENST00000635998.1:c.261C>T ENSP00000490506.1:p.Phe87=
ENST00000636009.1:c.193C>T ENSP00000489988.1:n.193C>T
ENST00000636033.1:c.*97C>T ENSP00000489617.1:n.*97C>T
ENST00000636050.1:c.*104C>T ENSP00000490562.1:n.*104C>T
ENST00000636128.1:c.261C>T ENSP00000489789.1:p.Phe87=
ENST00000636160.1:c.*153C>T ENSP00000489651.1:n.*153C>T
ENST00000636171.1:c.261C>T ENSP00000489761.1:p.Phe87=
ENST00000636269.1:c.66C>T ENSP00000490738.1:p.Phe22=
ENST00000636299.1:c.*32C>T ENSP00000490202.1:n.*32C>T
ENST00000636435.1:n.345C>T
ENST00000636455.1:c.309C>T ENSP00000490502.1:p.Phe103=
ENST00000636494.1:c.*41C>T ENSP00000490388.1:n.*41C>T
ENST00000636537.1:c.309C>T ENSP00000489914.1:p.Phe103=
ENST00000636577.1:c.261C>T ENSP00000490027.1:p.Phe87=
ENST00000636691.1:c.66C>T ENSP00000490725.1:p.Phe22=
ENST00000636701.1:c.126-2536C>T ENSP00000489800.1:n.126-2536C>T
ENST00000636715.1:c.*41C>T ENSP00000490876.1:n.*41C>T
ENST00000636815.1:c.178C>T
ENST00000636823.1:c.66C>T ENSP00000490798.1:p.Phe22=
ENST00000636828.1:n.437C>T
ENST00000636920.1:c.*97C>T ENSP00000490437.1:n.*97C>T
ENST00000636997.1:c.216+1466C>T ENSP00000490093.1:n.216+1466C>T
ENST00000637013.1:c.*473C>T ENSP00000490596.1:n.*473C>T
ENST00000637095.1:c.*41C>T ENSP00000490415.1:n.*41C>T
ENST00000637202.1:c.*41C>T ENSP00000490129.1:n.*41C>T
ENST00000637244.1:c.*779C>T ENSP00000490188.1:n.*779C>T
ENST00000637429.1:c.*473C>T ENSP00000490522.1:n.*473C>T
ENST00000637484.1:c.*298C>T ENSP00000490837.1:n.*298C>T
ENST00000637528.1:c.261C>T ENSP00000490801.1:p.Phe87=
ENST00000637561.1:c.261C>T ENSP00000490536.1:p.Phe87=
ENST00000637603.1:c.261C>T ENSP00000489979.1:p.Phe87=
ENST00000637609.1:n.294C>T
ENST00000637636.1:c.255C>T ENSP00000490112.1:p.Phe85=
ENST00000637638.1:c.261C>T ENSP00000490774.1:p.Phe87=
ENST00000637718.1:c.66C>T ENSP00000490133.1:p.Phe22=
ENST00000637792.1:c.303C>T ENSP00000490423.1:p.Phe101=
ENST00000637805.1:c.*97C>T ENSP00000489884.1:n.*97C>T
ENST00000637872.1:c.66C>T ENSP00000490432.1:p.Phe22=
ENST00000637898.1:n.291C>T
ENST00000637922.1:c.66C>T ENSP00000490071.1:p.Phe22=
ENST00000637991.1:c.309C>T ENSP00000489901.1:p.Phe103=
ENST00000638069.1:n.317C>T
XM_005273504.2:c.195C>T XP_005273561.1:p.Phe65=
XM_005273504.3:c.195C>T XP_005273561.1:p.Phe65=