Canonical Allele Identifier: CA370429335

Gene: ASAH1

Linked Data

• dbSNP Id: rs1364836936
• gnomAD v2: 8-17918916-A-G
• gnomAD v4: 8-18061407-A-G
• MyVariant Identifiers: chr8:g.17918916A>G (hg19) ; chr8:g.18061407A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061407A>G , CM000670.2:g.18061407A>G	GRCh38
NC_000008.10:g.17918916A>G , CM000670.1:g.17918916A>G	GRCh37
NC_000008.9:g.17963196A>G	NCBI36
NG_008985.1:g.28592T>C
NG_008985.2:g.28592T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.803T>C	ENSP00000371152.4:p.Leu268Pro
ENST00000517409.2:n.723T>C
ENST00000518746.2:n.2441T>C
ENST00000520781.6:c.680T>C	ENSP00000427751.1:p.Leu227Pro
ENST00000521542.2:n.63T>C
ENST00000635756.1:c.168T>C
ENST00000635944.1:c.*591T>C	ENSP00000490195.1:n.*591T>C
ENST00000635998.1:c.755T>C	ENSP00000490506.1:p.Leu252Pro
ENST00000636009.1:c.612T>C	ENSP00000489988.1:n.612T>C
ENST00000636033.1:c.*591T>C	ENSP00000489617.1:n.*591T>C
ENST00000636050.1:c.*598T>C	ENSP00000490562.1:n.*598T>C
ENST00000636128.1:c.434T>C	ENSP00000489789.1:p.Leu145Pro
ENST00000636160.1:c.*647T>C	ENSP00000489651.1:n.*647T>C
ENST00000636171.1:c.698T>C	ENSP00000489761.1:p.Leu233Pro
ENST00000636455.1:c.803T>C	ENSP00000490502.1:p.Leu268Pro
ENST00000636494.1:c.*535T>C	ENSP00000490388.1:n.*535T>C
ENST00000636563.1:n.417T>C
ENST00000636577.1:c.695T>C	ENSP00000490027.1:p.Leu232Pro
ENST00000636691.1:c.560T>C	ENSP00000490725.1:p.Leu187Pro
ENST00000636701.1:c.*406T>C	ENSP00000489800.1:n.*406T>C
ENST00000636815.1:c.672T>C
ENST00000636920.1:c.*591T>C	ENSP00000490437.1:n.*591T>C
ENST00000636997.1:c.668T>C	ENSP00000490093.1:p.Leu223Pro
ENST00000637013.1:c.*1123T>C	ENSP00000490596.1:n.*1123T>C
ENST00000637014.1:n.1162T>C
ENST00000637095.1:c.*535T>C	ENSP00000490415.1:n.*535T>C
ENST00000637244.1:c.*1273T>C	ENSP00000490188.1:n.*1273T>C
ENST00000637343.1:n.2192T>C
ENST00000637429.1:c.*967T>C	ENSP00000490522.1:n.*967T>C
ENST00000637484.1:c.*717T>C	ENSP00000490837.1:n.*717T>C
ENST00000637528.1:c.692T>C	ENSP00000490801.1:p.Leu231Pro
ENST00000637609.1:n.3476T>C
ENST00000637636.1:c.749T>C	ENSP00000490112.1:p.Leu250Pro
ENST00000637790.2:c.755T>C MANE Select	ENSP00000490272.1:p.Leu252Pro
ENST00000637857.1:n.1121T>C
ENST00000637922.1:c.560T>C	ENSP00000490071.1:p.Leu187Pro
ENST00000637991.1:c.728T>C	ENSP00000489901.1:p.Leu243Pro
ENST00000638028.1:n.972T>C
ENST00000638069.1:n.1576T>C
ENST00000262097.10:c.755T>C	ENSP00000262097.6:p.Leu252Pro
ENST00000314146.10:c.737T>C	ENSP00000326970.10:p.Leu246Pro
ENST00000381733.8:c.803T>C	ENSP00000371152.4:p.Leu268Pro
ENST00000518746.1:n.572T>C
ENST00000519468.5:n.584T>C
ENST00000520781.5:c.680T>C	ENSP00000427751.1:p.Leu227Pro
ENST00000521542.1:n.468T>C
NM_001127505.1:c.737T>C	NP_001120977.1:p.Leu246Pro
NM_001127505.2:c.737T>C	NP_001120977.1:p.Leu246Pro
NM_004315.4:c.803T>C	NP_004306.3:p.Leu268Pro
NM_004315.5:c.803T>C	NP_004306.3:p.Leu268Pro
NM_177924.3:c.755T>C	NP_808592.2:p.Leu252Pro
NM_177924.4:c.755T>C	NP_808592.2:p.Leu252Pro
XM_005273504.2:c.689T>C	XP_005273561.1:p.Leu230Pro
NM_001363743.1:c.560T>C	NP_001350672.1:p.Leu187Pro
XM_005273504.3:c.689T>C	XP_005273561.1:p.Leu230Pro
NM_177924.5:c.755T>C MANE Select	NP_808592.2:p.Leu252Pro
NM_001127505.3:c.737T>C	NP_001120977.1:p.Leu246Pro
NM_001363743.2:c.560T>C	NP_001350672.1:p.Leu187Pro
NM_004315.6:c.803T>C	NP_004306.3:p.Leu268Pro