Canonical Allele Identifier: CA459662198

Gene: ASAH1

Linked Data

• dbSNP Id: rs1303951221
• gnomAD v2: 8-17918915-G-A
• gnomAD v4: 8-18061406-G-A
• MyVariant Identifiers: chr8:g.17918915G>A (hg19) ; chr8:g.18061406G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061406G>A , CM000670.2:g.18061406G>A	GRCh38
NC_000008.10:g.17918915G>A , CM000670.1:g.17918915G>A	GRCh37
NC_000008.9:g.17963195G>A	NCBI36
NG_008985.1:g.28593C>T
NG_008985.2:g.28593C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.804C>T	ENSP00000371152.4:p.Leu268=
ENST00000517409.2:n.724C>T
ENST00000518746.2:n.2442C>T
ENST00000520781.6:c.681C>T	ENSP00000427751.1:p.Leu227=
ENST00000521542.2:n.64C>T
ENST00000635756.1:c.169C>T
ENST00000635944.1:c.*592C>T	ENSP00000490195.1:n.*592C>T
ENST00000635998.1:c.756C>T	ENSP00000490506.1:p.Leu252=
ENST00000636009.1:c.613C>T	ENSP00000489988.1:n.613C>T
ENST00000636033.1:c.*592C>T	ENSP00000489617.1:n.*592C>T
ENST00000636050.1:c.*599C>T	ENSP00000490562.1:n.*599C>T
ENST00000636128.1:c.435C>T	ENSP00000489789.1:p.Leu145=
ENST00000636160.1:c.*648C>T	ENSP00000489651.1:n.*648C>T
ENST00000636171.1:c.699C>T	ENSP00000489761.1:p.Leu233=
ENST00000636455.1:c.804C>T	ENSP00000490502.1:p.Leu268=
ENST00000636494.1:c.*536C>T	ENSP00000490388.1:n.*536C>T
ENST00000636563.1:n.418C>T
ENST00000636577.1:c.696C>T	ENSP00000490027.1:p.Leu232=
ENST00000636691.1:c.561C>T	ENSP00000490725.1:p.Leu187=
ENST00000636701.1:c.*407C>T	ENSP00000489800.1:n.*407C>T
ENST00000636815.1:c.673C>T
ENST00000636920.1:c.*592C>T	ENSP00000490437.1:n.*592C>T
ENST00000636997.1:c.669C>T	ENSP00000490093.1:p.Leu223=
ENST00000637013.1:c.*1124C>T	ENSP00000490596.1:n.*1124C>T
ENST00000637014.1:n.1163C>T
ENST00000637095.1:c.*536C>T	ENSP00000490415.1:n.*536C>T
ENST00000637244.1:c.*1274C>T	ENSP00000490188.1:n.*1274C>T
ENST00000637343.1:n.2193C>T
ENST00000637429.1:c.*968C>T	ENSP00000490522.1:n.*968C>T
ENST00000637484.1:c.*718C>T	ENSP00000490837.1:n.*718C>T
ENST00000637528.1:c.693C>T	ENSP00000490801.1:p.Leu231=
ENST00000637609.1:n.3477C>T
ENST00000637636.1:c.750C>T	ENSP00000490112.1:p.Leu250=
ENST00000637790.2:c.756C>T MANE Select	ENSP00000490272.1:p.Leu252=
ENST00000637857.1:n.1122C>T
ENST00000637922.1:c.561C>T	ENSP00000490071.1:p.Leu187=
ENST00000637991.1:c.729C>T	ENSP00000489901.1:p.Leu243=
ENST00000638028.1:n.973C>T
ENST00000638069.1:n.1577C>T
ENST00000262097.10:c.756C>T	ENSP00000262097.6:p.Leu252=
ENST00000314146.10:c.738C>T	ENSP00000326970.10:p.Leu246=
ENST00000381733.8:c.804C>T	ENSP00000371152.4:p.Leu268=
ENST00000518746.1:n.573C>T
ENST00000519468.5:n.585C>T
ENST00000520781.5:c.681C>T	ENSP00000427751.1:p.Leu227=
ENST00000521542.1:n.469C>T
NM_001127505.1:c.738C>T	NP_001120977.1:p.Leu246=
NM_001127505.2:c.738C>T	NP_001120977.1:p.Leu246=
NM_004315.4:c.804C>T	NP_004306.3:p.Leu268=
NM_004315.5:c.804C>T	NP_004306.3:p.Leu268=
NM_177924.3:c.756C>T	NP_808592.2:p.Leu252=
NM_177924.4:c.756C>T	NP_808592.2:p.Leu252=
XM_005273504.2:c.690C>T	XP_005273561.1:p.Leu230=
NM_001363743.1:c.561C>T	NP_001350672.1:p.Leu187=
XM_005273504.3:c.690C>T	XP_005273561.1:p.Leu230=
NM_177924.5:c.756C>T MANE Select	NP_808592.2:p.Leu252=
NM_001127505.3:c.738C>T	NP_001120977.1:p.Leu246=
NM_001363743.2:c.561C>T	NP_001350672.1:p.Leu187=
NM_004315.6:c.804C>T	NP_004306.3:p.Leu268=