Canonical Allele Identifier: CA370431783

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18064515-G-C
• MyVariant Identifiers: chr8:g.17922024G>C (hg19) ; chr8:g.18064515G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064515G>C , CM000670.2:g.18064515G>C	GRCh38
NC_000008.10:g.17922024G>C , CM000670.1:g.17922024G>C	GRCh37
NC_000008.9:g.17966304G>C	NCBI36
NG_008985.1:g.25484C>G
NG_008985.2:g.25484C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.447C>G	ENSP00000371152.4:p.Phe149Leu
ENST00000519545.6:n.416C>G
ENST00000520781.6:c.383-1285C>G	ENSP00000427751.1:n.383-1285C>G
ENST00000523593.6:c.*242C>G	ENSP00000490700.1:n.*242C>G
ENST00000523744.2:n.4157C>G
ENST00000635769.1:c.420C>G	ENSP00000490485.1:p.Phe140Leu
ENST00000635944.1:c.*235C>G	ENSP00000490195.1:n.*235C>G
ENST00000635998.1:c.399C>G	ENSP00000490506.1:p.Phe133Leu
ENST00000636009.1:c.315-1285C>G	ENSP00000489988.1:n.315-1285C>G
ENST00000636033.1:c.*235C>G	ENSP00000489617.1:n.*235C>G
ENST00000636050.1:c.*242C>G	ENSP00000490562.1:n.*242C>G
ENST00000636128.1:c.382+2705C>G	ENSP00000489789.1:n.382+2705C>G
ENST00000636160.1:c.*291C>G	ENSP00000489651.1:n.*291C>G
ENST00000636171.1:c.383-41C>G	ENSP00000489761.1:n.383-41C>G
ENST00000636299.1:c.*170C>G	ENSP00000490202.1:n.*170C>G
ENST00000636435.1:n.3171C>G
ENST00000636455.1:c.447C>G	ENSP00000490502.1:p.Phe149Leu
ENST00000636494.1:c.*179C>G	ENSP00000490388.1:n.*179C>G
ENST00000636563.1:n.61C>G
ENST00000636577.1:c.383-44C>G	ENSP00000490027.1:n.383-44C>G
ENST00000636691.1:c.204C>G	ENSP00000490725.1:p.Phe68Leu
ENST00000636701.1:c.*50C>G	ENSP00000489800.1:n.*50C>G
ENST00000636815.1:c.316C>G
ENST00000636823.1:c.204C>G	ENSP00000490798.1:p.Phe68Leu
ENST00000636828.1:n.3263C>G
ENST00000636920.1:c.*235C>G	ENSP00000490437.1:n.*235C>G
ENST00000636997.1:c.312C>G	ENSP00000490093.1:p.Phe104Leu
ENST00000637013.1:c.*611C>G	ENSP00000490596.1:n.*611C>G
ENST00000637095.1:c.*179C>G	ENSP00000490415.1:n.*179C>G
ENST00000637244.1:c.*917C>G	ENSP00000490188.1:n.*917C>G
ENST00000637343.1:n.610C>G
ENST00000637429.1:c.*611C>G	ENSP00000490522.1:n.*611C>G
ENST00000637484.1:c.*420-1285C>G	ENSP00000490837.1:n.*420-1285C>G
ENST00000637528.1:c.383-47C>G	ENSP00000490801.1:n.383-47C>G
ENST00000637603.1:c.369C>G	ENSP00000489979.1:p.Phe123Leu
ENST00000637609.1:n.3120C>G
ENST00000637636.1:c.393C>G	ENSP00000490112.1:p.Phe131Leu
ENST00000637638.1:c.399C>G	ENSP00000490774.1:p.Phe133Leu
ENST00000637718.1:c.204C>G	ENSP00000490133.1:p.Phe68Leu
ENST00000637790.2:c.399C>G MANE Select	ENSP00000490272.1:p.Phe133Leu
ENST00000637857.1:n.105-2092C>G
ENST00000637922.1:c.204C>G	ENSP00000490071.1:p.Phe68Leu
ENST00000637991.1:c.431-1285C>G	ENSP00000489901.1:n.431-1285C>G
ENST00000638069.1:n.455C>G
ENST00000262097.10:c.399C>G	ENSP00000262097.6:p.Phe133Leu
ENST00000314146.10:c.381C>G	ENSP00000326970.10:p.Phe127Leu
ENST00000381733.8:c.447C>G	ENSP00000371152.4:p.Phe149Leu
ENST00000519468.5:n.389-2148C>G
ENST00000519545.5:n.413C>G
ENST00000520781.5:c.383-1285C>G	ENSP00000427751.1:n.383-1285C>G
ENST00000523593.5:n.252C>G
ENST00000523744.1:n.402C>G
NM_001127505.1:c.381C>G	NP_001120977.1:p.Phe127Leu
NM_001127505.2:c.381C>G	NP_001120977.1:p.Phe127Leu
NM_004315.4:c.447C>G	NP_004306.3:p.Phe149Leu
NM_004315.5:c.447C>G	NP_004306.3:p.Phe149Leu
NM_177924.3:c.399C>G	NP_808592.2:p.Phe133Leu
NM_177924.4:c.399C>G	NP_808592.2:p.Phe133Leu
XM_005273504.2:c.333C>G	XP_005273561.1:p.Phe111Leu
NM_001363743.1:c.204C>G	NP_001350672.1:p.Phe68Leu
XM_005273504.3:c.333C>G	XP_005273561.1:p.Phe111Leu
NM_177924.5:c.399C>G MANE Select	NP_808592.2:p.Phe133Leu
NM_001127505.3:c.381C>G	NP_001120977.1:p.Phe127Leu
NM_001363743.2:c.204C>G	NP_001350672.1:p.Phe68Leu
NM_004315.6:c.447C>G	NP_004306.3:p.Phe149Leu