Canonical Allele Identifier: CA370427406

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18059391C>T , CM000670.2:g.18059391C>T	GRCh38
NC_000008.10:g.17916900C>T , CM000670.1:g.17916900C>T	GRCh37
NC_000008.9:g.17961180C>T	NCBI36
NG_008985.1:g.30608G>A
NG_008985.2:g.30608G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.991G>A MANE Select	NP_808592.2:p.Asp331Asn
ENST00000637790.2:c.991G>A MANE Select	ENSP00000490272.1:p.Asp331Asn
NM_001127505.1:c.973G>A	NP_001120977.1:p.Asp325Asn
NM_001127505.2:c.973G>A	NP_001120977.1:p.Asp325Asn
NM_001127505.3:c.973G>A	NP_001120977.1:p.Asp325Asn
NM_001363743.1:c.796G>A	NP_001350672.1:p.Asp266Asn
NM_001363743.2:c.796G>A	NP_001350672.1:p.Asp266Asn
NM_004315.4:c.1039G>A	NP_004306.3:p.Asp347Asn
NM_004315.5:c.1039G>A	NP_004306.3:p.Asp347Asn
NM_004315.6:c.1039G>A	NP_004306.3:p.Asp347Asn
NM_177924.3:c.991G>A	NP_808592.2:p.Asp331Asn
NM_177924.4:c.991G>A	NP_808592.2:p.Asp331Asn
ENST00000262097.10:c.991G>A	ENSP00000262097.6:p.Asp331Asn
ENST00000314146.10:c.973G>A	ENSP00000326970.10:p.Asp325Asn
ENST00000381733.8:c.1039G>A	ENSP00000371152.4:p.Asp347Asn
ENST00000381733.9:c.1039G>A	ENSP00000371152.4:p.Asp347Asn
ENST00000518746.2:n.2677G>A
ENST00000520781.5:c.916G>A	ENSP00000427751.1:p.Asp306Asn
ENST00000520781.6:c.916G>A	ENSP00000427751.1:p.Asp306Asn
ENST00000635756.1:c.404G>A
ENST00000635944.1:c.*827G>A	ENSP00000490195.1:n.*827G>A
ENST00000635998.1:c.991G>A	ENSP00000490506.1:p.Asp331Asn
ENST00000636009.1:c.848G>A	ENSP00000489988.1:n.848G>A
ENST00000636033.1:c.*827G>A	ENSP00000489617.1:n.*827G>A
ENST00000636050.1:c.*834G>A	ENSP00000490562.1:n.*834G>A
ENST00000636128.1:c.670G>A	ENSP00000489789.1:p.Asp224Asn
ENST00000636160.1:c.*883G>A	ENSP00000489651.1:n.*883G>A
ENST00000636171.1:c.934G>A	ENSP00000489761.1:p.Asp312Asn
ENST00000636455.1:c.965+181G>A	ENSP00000490502.1:n.965+181G>A
ENST00000636494.1:c.*771G>A	ENSP00000490388.1:n.*771G>A
ENST00000636563.1:n.653G>A
ENST00000636577.1:c.931G>A	ENSP00000490027.1:p.Asp311Asn
ENST00000636691.1:c.796G>A	ENSP00000490725.1:p.Asp266Asn
ENST00000636701.1:c.*642G>A	ENSP00000489800.1:n.*642G>A
ENST00000636815.1:c.908G>A
ENST00000636920.1:c.*827G>A	ENSP00000490437.1:n.*827G>A
ENST00000636997.1:c.904G>A	ENSP00000490093.1:p.Asp302Asn
ENST00000637013.1:c.*1359G>A	ENSP00000490596.1:n.*1359G>A
ENST00000637014.1:n.1398G>A
ENST00000637095.1:c.*771G>A	ENSP00000490415.1:n.*771G>A
ENST00000637244.1:c.*1509G>A	ENSP00000490188.1:n.*1509G>A
ENST00000637343.1:n.2428G>A
ENST00000637429.1:c.*1203G>A	ENSP00000490522.1:n.*1203G>A
ENST00000637484.1:c.*953G>A	ENSP00000490837.1:n.*953G>A
ENST00000637528.1:c.928G>A	ENSP00000490801.1:p.Asp310Asn
ENST00000637609.1:n.3712G>A
ENST00000637636.1:c.985G>A	ENSP00000490112.1:p.Asp329Asn
ENST00000637857.1:n.1357G>A
ENST00000637922.1:c.796G>A	ENSP00000490071.1:p.Asp266Asn
ENST00000637991.1:c.964G>A	ENSP00000489901.1:p.Asp322Asn
ENST00000638028.1:n.1208G>A
ENST00000638069.1:n.1812G>A
XM_005273504.2:c.925G>A	XP_005273561.1:p.Asp309Asn
XM_005273504.3:c.925G>A	XP_005273561.1:p.Asp309Asn