Canonical Allele Identifier: CA370429495

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18061453-G-T
• MyVariant Identifiers: chr8:g.17918962G>T (hg19) ; chr8:g.18061453G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061453G>T , CM000670.2:g.18061453G>T	GRCh38
NC_000008.10:g.17918962G>T , CM000670.1:g.17918962G>T	GRCh37
NC_000008.9:g.17963242G>T	NCBI36
NG_008985.1:g.28546C>A
NG_008985.2:g.28546C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.757C>A	ENSP00000371152.4:p.Leu253Ile
ENST00000517409.2:n.677C>A
ENST00000518746.2:n.2395C>A
ENST00000519545.6:n.726C>A
ENST00000520781.6:c.634C>A	ENSP00000427751.1:p.Leu212Ile
ENST00000521542.2:n.17C>A
ENST00000635756.1:c.126-4C>A
ENST00000635944.1:c.*545C>A	ENSP00000490195.1:n.*545C>A
ENST00000635998.1:c.709C>A	ENSP00000490506.1:p.Leu237Ile
ENST00000636009.1:c.566C>A	ENSP00000489988.1:n.566C>A
ENST00000636033.1:c.*545C>A	ENSP00000489617.1:n.*545C>A
ENST00000636050.1:c.*552C>A	ENSP00000490562.1:n.*552C>A
ENST00000636128.1:c.388C>A	ENSP00000489789.1:p.Leu130Ile
ENST00000636160.1:c.*601C>A	ENSP00000489651.1:n.*601C>A
ENST00000636171.1:c.652C>A	ENSP00000489761.1:p.Leu218Ile
ENST00000636455.1:c.757C>A	ENSP00000490502.1:p.Leu253Ile
ENST00000636494.1:c.*489C>A	ENSP00000490388.1:n.*489C>A
ENST00000636563.1:n.371C>A
ENST00000636577.1:c.649C>A	ENSP00000490027.1:p.Leu217Ile
ENST00000636691.1:c.514C>A	ENSP00000490725.1:p.Leu172Ile
ENST00000636701.1:c.*360C>A	ENSP00000489800.1:n.*360C>A
ENST00000636815.1:c.626C>A
ENST00000636920.1:c.*545C>A	ENSP00000490437.1:n.*545C>A
ENST00000636997.1:c.622C>A	ENSP00000490093.1:p.Leu208Ile
ENST00000637013.1:c.*1077C>A	ENSP00000490596.1:n.*1077C>A
ENST00000637014.1:n.1116C>A
ENST00000637095.1:c.*489C>A	ENSP00000490415.1:n.*489C>A
ENST00000637244.1:c.*1227C>A	ENSP00000490188.1:n.*1227C>A
ENST00000637343.1:n.2146C>A
ENST00000637429.1:c.*921C>A	ENSP00000490522.1:n.*921C>A
ENST00000637484.1:c.*671C>A	ENSP00000490837.1:n.*671C>A
ENST00000637528.1:c.646C>A	ENSP00000490801.1:p.Leu216Ile
ENST00000637609.1:n.3430C>A
ENST00000637636.1:c.703C>A	ENSP00000490112.1:p.Leu235Ile
ENST00000637790.2:c.709C>A MANE Select	ENSP00000490272.1:p.Leu237Ile
ENST00000637857.1:n.1075C>A
ENST00000637922.1:c.514C>A	ENSP00000490071.1:p.Leu172Ile
ENST00000637991.1:c.682C>A	ENSP00000489901.1:p.Leu228Ile
ENST00000638028.1:n.926C>A
ENST00000638069.1:n.1530C>A
ENST00000262097.10:c.709C>A	ENSP00000262097.6:p.Leu237Ile
ENST00000314146.10:c.691C>A	ENSP00000326970.10:p.Leu231Ile
ENST00000381733.8:c.757C>A	ENSP00000371152.4:p.Leu253Ile
ENST00000518746.1:n.526C>A
ENST00000519468.5:n.538C>A
ENST00000520781.5:c.634C>A	ENSP00000427751.1:p.Leu212Ile
ENST00000521542.1:n.422C>A
NM_001127505.1:c.691C>A	NP_001120977.1:p.Leu231Ile
NM_001127505.2:c.691C>A	NP_001120977.1:p.Leu231Ile
NM_004315.4:c.757C>A	NP_004306.3:p.Leu253Ile
NM_004315.5:c.757C>A	NP_004306.3:p.Leu253Ile
NM_177924.3:c.709C>A	NP_808592.2:p.Leu237Ile
NM_177924.4:c.709C>A	NP_808592.2:p.Leu237Ile
XM_005273504.2:c.643C>A	XP_005273561.1:p.Leu215Ile
NM_001363743.1:c.514C>A	NP_001350672.1:p.Leu172Ile
XM_005273504.3:c.643C>A	XP_005273561.1:p.Leu215Ile
NM_177924.5:c.709C>A MANE Select	NP_808592.2:p.Leu237Ile
NM_001127505.3:c.691C>A	NP_001120977.1:p.Leu231Ile
NM_001363743.2:c.514C>A	NP_001350672.1:p.Leu172Ile
NM_004315.6:c.757C>A	NP_004306.3:p.Leu253Ile