Canonical Allele Identifier: CA173134937

Gene: ASAH1

Linked Data

• dbSNP Id: rs896809808
• gnomAD v3: 8-18057316-C-A
• gnomAD v4: 8-18057316-C-A
• MyVariant Identifiers: chr8:g.17914825C>A (hg19) ; chr8:g.18057316C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18057316C>A , CM000670.2:g.18057316C>A	GRCh38
NC_000008.10:g.17914825C>A , CM000670.1:g.17914825C>A	GRCh37
NC_000008.9:g.17959105C>A	NCBI36
NG_008985.1:g.32683G>T
NG_008985.2:g.32683G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.*218G>T	ENSP00000371152.4:n.*218G>T
ENST00000518746.2:n.3092G>T
ENST00000520781.6:c.*218G>T	ENSP00000427751.1:n.*218G>T
ENST00000635756.1:c.819G>T
ENST00000635944.1:c.*1242G>T	ENSP00000490195.1:n.*1242G>T
ENST00000635998.1:c.*119G>T	ENSP00000490506.1:n.*119G>T
ENST00000636009.1:c.1263G>T	ENSP00000489988.1:n.1263G>T
ENST00000636033.1:c.*1242G>T	ENSP00000489617.1:n.*1242G>T
ENST00000636050.1:c.*1249G>T	ENSP00000490562.1:n.*1249G>T
ENST00000636128.1:c.*218G>T	ENSP00000489789.1:n.*218G>T
ENST00000636160.1:c.*1298G>T	ENSP00000489651.1:n.*1298G>T
ENST00000636171.1:c.*218G>T	ENSP00000489761.1:n.*218G>T
ENST00000636455.1:c.*304G>T	ENSP00000490502.1:n.*304G>T
ENST00000636494.1:c.*1186G>T	ENSP00000490388.1:n.*1186G>T
ENST00000636563.1:n.1068G>T
ENST00000636577.1:c.*218G>T	ENSP00000490027.1:n.*218G>T
ENST00000636691.1:c.*218G>T	ENSP00000490725.1:n.*218G>T
ENST00000636701.1:c.*1057G>T	ENSP00000489800.1:n.*1057G>T
ENST00000636815.1:c.1323G>T
ENST00000636920.1:c.*1242G>T	ENSP00000490437.1:n.*1242G>T
ENST00000636997.1:c.*218G>T	ENSP00000490093.1:n.*218G>T
ENST00000637013.1:c.*1774G>T	ENSP00000490596.1:n.*1774G>T
ENST00000637014.1:n.1813G>T
ENST00000637095.1:c.*1186G>T	ENSP00000490415.1:n.*1186G>T
ENST00000637244.1:c.*1924G>T	ENSP00000490188.1:n.*1924G>T
ENST00000637343.1:n.2843G>T
ENST00000637429.1:c.*1618G>T	ENSP00000490522.1:n.*1618G>T
ENST00000637484.1:c.*1368G>T	ENSP00000490837.1:n.*1368G>T
ENST00000637528.1:c.*218G>T	ENSP00000490801.1:n.*218G>T
ENST00000637609.1:n.4127G>T
ENST00000637636.1:c.*218G>T	ENSP00000490112.1:n.*218G>T
ENST00000637752.1:n.1848G>T
ENST00000637790.2:c.*218G>T MANE Select	ENSP00000490272.1:n.*218G>T
ENST00000637857.1:n.1772G>T
ENST00000637922.1:c.*218G>T	ENSP00000490071.1:n.*218G>T
ENST00000637991.1:c.*218G>T	ENSP00000489901.1:n.*218G>T
ENST00000638028.1:n.1623G>T
ENST00000638069.1:n.2227G>T
ENST00000262097.10:c.*218G>T	ENSP00000262097.6:n.*218G>T
ENST00000314146.10:c.*218G>T	ENSP00000326970.10:n.*218G>T
ENST00000381733.8:c.*218G>T	ENSP00000371152.4:n.*218G>T
ENST00000520781.5:c.*218G>T	ENSP00000427751.1:n.*218G>T
NM_001127505.1:c.*218G>T	NP_001120977.1:n.*218G>T
NM_001127505.2:c.*218G>T	NP_001120977.1:n.*218G>T
NM_004315.4:c.*218G>T	NP_004306.3:n.*218G>T
NM_004315.5:c.*218G>T	NP_004306.3:n.*218G>T
NM_177924.3:c.*218G>T	NP_808592.2:n.*218G>T
NM_177924.4:c.*218G>T	NP_808592.2:n.*218G>T
XM_005273504.2:c.*218G>T	XP_005273561.1:n.*218G>T
NM_001363743.1:c.*218G>T	NP_001350672.1:n.*218G>T
XM_005273504.3:c.*218G>T	XP_005273561.1:n.*218G>T
NM_177924.5:c.*218G>T MANE Select	NP_808592.2:n.*218G>T
NM_001127505.3:c.*218G>T	NP_001120977.1:n.*218G>T
NM_001363743.2:c.*218G>T	NP_001350672.1:n.*218G>T
NM_004315.6:c.*218G>T	NP_004306.3:n.*218G>T