Canonical Allele Identifier: CA2686311478

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18057210-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18057210C>A , CM000670.2:g.18057210C>A	GRCh38
NC_000008.10:g.17914719C>A , CM000670.1:g.17914719C>A	GRCh37
NC_000008.9:g.17958999C>A	NCBI36
NG_008985.1:g.32789G>T
NG_008985.2:g.32789G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.*324G>T	ENSP00000371152.4:n.*324G>T
ENST00000518746.2:n.3198G>T
ENST00000520781.6:c.*324G>T	ENSP00000427751.1:n.*324G>T
ENST00000635756.1:c.925G>T
ENST00000635944.1:c.*1348G>T	ENSP00000490195.1:n.*1348G>T
ENST00000635998.1:c.*225G>T	ENSP00000490506.1:n.*225G>T
ENST00000636009.1:c.1369G>T	ENSP00000489988.1:n.1369G>T
ENST00000636033.1:c.*1348G>T	ENSP00000489617.1:n.*1348G>T
ENST00000636050.1:c.*1355G>T	ENSP00000490562.1:n.*1355G>T
ENST00000636128.1:c.*324G>T	ENSP00000489789.1:n.*324G>T
ENST00000636160.1:c.*1404G>T	ENSP00000489651.1:n.*1404G>T
ENST00000636171.1:c.*324G>T	ENSP00000489761.1:n.*324G>T
ENST00000636455.1:c.*410G>T	ENSP00000490502.1:n.*410G>T
ENST00000636494.1:c.*1292G>T	ENSP00000490388.1:n.*1292G>T
ENST00000636563.1:n.1174G>T
ENST00000636577.1:c.*324G>T	ENSP00000490027.1:n.*324G>T
ENST00000636691.1:c.*324G>T	ENSP00000490725.1:n.*324G>T
ENST00000636701.1:c.*1163G>T	ENSP00000489800.1:n.*1163G>T
ENST00000636815.1:c.1429G>T
ENST00000636920.1:c.*1348G>T	ENSP00000490437.1:n.*1348G>T
ENST00000636997.1:c.*324G>T	ENSP00000490093.1:n.*324G>T
ENST00000637013.1:c.*1880G>T	ENSP00000490596.1:n.*1880G>T
ENST00000637014.1:n.1919G>T
ENST00000637095.1:c.*1292G>T	ENSP00000490415.1:n.*1292G>T
ENST00000637244.1:c.*2030G>T	ENSP00000490188.1:n.*2030G>T
ENST00000637343.1:n.2949G>T
ENST00000637429.1:c.*1724G>T	ENSP00000490522.1:n.*1724G>T
ENST00000637484.1:c.*1474G>T	ENSP00000490837.1:n.*1474G>T
ENST00000637528.1:c.*324G>T	ENSP00000490801.1:n.*324G>T
ENST00000637609.1:n.4233G>T
ENST00000637636.1:c.*324G>T	ENSP00000490112.1:n.*324G>T
ENST00000637752.1:n.1954G>T
ENST00000637790.2:c.*324G>T MANE Select	ENSP00000490272.1:n.*324G>T
ENST00000637857.1:n.1878G>T
ENST00000637922.1:c.*324G>T	ENSP00000490071.1:n.*324G>T
ENST00000637991.1:c.*324G>T	ENSP00000489901.1:n.*324G>T
ENST00000638028.1:n.1729G>T
ENST00000638069.1:n.2333G>T
ENST00000262097.10:c.*324G>T	ENSP00000262097.6:n.*324G>T
ENST00000314146.10:c.*324G>T	ENSP00000326970.10:n.*324G>T
ENST00000381733.8:c.*324G>T	ENSP00000371152.4:n.*324G>T
ENST00000520781.5:c.*324G>T	ENSP00000427751.1:n.*324G>T
NM_001127505.1:c.*324G>T	NP_001120977.1:n.*324G>T
NM_001127505.2:c.*324G>T	NP_001120977.1:n.*324G>T
NM_004315.4:c.*324G>T	NP_004306.3:n.*324G>T
NM_004315.5:c.*324G>T	NP_004306.3:n.*324G>T
NM_177924.3:c.*324G>T	NP_808592.2:n.*324G>T
NM_177924.4:c.*324G>T	NP_808592.2:n.*324G>T
XM_005273504.2:c.*324G>T	XP_005273561.1:n.*324G>T
NM_001363743.1:c.*324G>T	NP_001350672.1:n.*324G>T
XM_005273504.3:c.*324G>T	XP_005273561.1:n.*324G>T
NM_177924.5:c.*324G>T MANE Select	NP_808592.2:n.*324G>T
NM_001127505.3:c.*324G>T	NP_001120977.1:n.*324G>T
NM_001363743.2:c.*324G>T	NP_001350672.1:n.*324G>T
NM_004315.6:c.*324G>T	NP_004306.3:n.*324G>T