Canonical Allele Identifier: CA370429300

Gene: ASAH1

Linked Data

• dbSNP Id: rs1799692820
• gnomAD v4: 8-18061396-C-T
• MyVariant Identifiers: chr8:g.17918905C>T (hg19) ; chr8:g.18061396C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061396C>T , CM000670.2:g.18061396C>T	GRCh38
NC_000008.10:g.17918905C>T , CM000670.1:g.17918905C>T	GRCh37
NC_000008.9:g.17963185C>T	NCBI36
NG_008985.1:g.28603G>A
NG_008985.2:g.28603G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.814G>A	ENSP00000371152.4:p.Val272Ile
ENST00000517409.2:n.734G>A
ENST00000518746.2:n.2452G>A
ENST00000520781.6:c.691G>A	ENSP00000427751.1:p.Val231Ile
ENST00000521542.2:n.74G>A
ENST00000635756.1:c.179G>A
ENST00000635944.1:c.*602G>A	ENSP00000490195.1:n.*602G>A
ENST00000635998.1:c.766G>A	ENSP00000490506.1:p.Val256Ile
ENST00000636009.1:c.623G>A	ENSP00000489988.1:n.623G>A
ENST00000636033.1:c.*602G>A	ENSP00000489617.1:n.*602G>A
ENST00000636050.1:c.*609G>A	ENSP00000490562.1:n.*609G>A
ENST00000636128.1:c.445G>A	ENSP00000489789.1:p.Val149Ile
ENST00000636160.1:c.*658G>A	ENSP00000489651.1:n.*658G>A
ENST00000636171.1:c.709G>A	ENSP00000489761.1:p.Val237Ile
ENST00000636455.1:c.814G>A	ENSP00000490502.1:p.Val272Ile
ENST00000636494.1:c.*546G>A	ENSP00000490388.1:n.*546G>A
ENST00000636563.1:n.428G>A
ENST00000636577.1:c.706G>A	ENSP00000490027.1:p.Val236Ile
ENST00000636691.1:c.571G>A	ENSP00000490725.1:p.Val191Ile
ENST00000636701.1:c.*417G>A	ENSP00000489800.1:n.*417G>A
ENST00000636815.1:c.683G>A
ENST00000636920.1:c.*602G>A	ENSP00000490437.1:n.*602G>A
ENST00000636997.1:c.679G>A	ENSP00000490093.1:p.Val227Ile
ENST00000637013.1:c.*1134G>A	ENSP00000490596.1:n.*1134G>A
ENST00000637014.1:n.1173G>A
ENST00000637095.1:c.*546G>A	ENSP00000490415.1:n.*546G>A
ENST00000637244.1:c.*1284G>A	ENSP00000490188.1:n.*1284G>A
ENST00000637343.1:n.2203G>A
ENST00000637429.1:c.*978G>A	ENSP00000490522.1:n.*978G>A
ENST00000637484.1:c.*728G>A	ENSP00000490837.1:n.*728G>A
ENST00000637528.1:c.703G>A	ENSP00000490801.1:p.Val235Ile
ENST00000637609.1:n.3487G>A
ENST00000637636.1:c.760G>A	ENSP00000490112.1:p.Val254Ile
ENST00000637790.2:c.766G>A MANE Select	ENSP00000490272.1:p.Val256Ile
ENST00000637857.1:n.1132G>A
ENST00000637922.1:c.571G>A	ENSP00000490071.1:p.Val191Ile
ENST00000637991.1:c.739G>A	ENSP00000489901.1:p.Val247Ile
ENST00000638028.1:n.983G>A
ENST00000638069.1:n.1587G>A
ENST00000262097.10:c.766G>A	ENSP00000262097.6:p.Val256Ile
ENST00000314146.10:c.748G>A	ENSP00000326970.10:p.Val250Ile
ENST00000381733.8:c.814G>A	ENSP00000371152.4:p.Val272Ile
ENST00000519468.5:n.595G>A
ENST00000520781.5:c.691G>A	ENSP00000427751.1:p.Val231Ile
ENST00000521542.1:n.479G>A
NM_001127505.1:c.748G>A	NP_001120977.1:p.Val250Ile
NM_001127505.2:c.748G>A	NP_001120977.1:p.Val250Ile
NM_004315.4:c.814G>A	NP_004306.3:p.Val272Ile
NM_004315.5:c.814G>A	NP_004306.3:p.Val272Ile
NM_177924.3:c.766G>A	NP_808592.2:p.Val256Ile
NM_177924.4:c.766G>A	NP_808592.2:p.Val256Ile
XM_005273504.2:c.700G>A	XP_005273561.1:p.Val234Ile
NM_001363743.1:c.571G>A	NP_001350672.1:p.Val191Ile
XM_005273504.3:c.700G>A	XP_005273561.1:p.Val234Ile
NM_177924.5:c.766G>A MANE Select	NP_808592.2:p.Val256Ile
NM_001127505.3:c.748G>A	NP_001120977.1:p.Val250Ile
NM_001363743.2:c.571G>A	NP_001350672.1:p.Val191Ile
NM_004315.6:c.814G>A	NP_004306.3:p.Val272Ile