Canonical Allele Identifier: CA4650686

Gene: ASAH1

Linked Data

• dbSNP Id: rs781103974
• ExAC: 8:17918887 T / C
• gnomAD v2: 8-17918887-T-C
• MyVariant Identifiers: chr8:g.17918887T>C (hg19) ; chr8:g.18061378T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061378T>C , CM000670.2:g.18061378T>C	GRCh38
NC_000008.10:g.17918887T>C , CM000670.1:g.17918887T>C	GRCh37
NC_000008.9:g.17963167T>C	NCBI36
NG_008985.1:g.28621A>G
NG_008985.2:g.28621A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.832A>G	ENSP00000371152.4:p.Ser278Gly
ENST00000518746.2:n.2470A>G
ENST00000520781.6:c.709A>G	ENSP00000427751.1:p.Ser237Gly
ENST00000521542.2:n.92A>G
ENST00000635756.1:c.197A>G
ENST00000635944.1:c.*620A>G	ENSP00000490195.1:n.*620A>G
ENST00000635998.1:c.784A>G	ENSP00000490506.1:p.Ser262Gly
ENST00000636009.1:c.641A>G	ENSP00000489988.1:n.641A>G
ENST00000636033.1:c.*620A>G	ENSP00000489617.1:n.*620A>G
ENST00000636050.1:c.*627A>G	ENSP00000490562.1:n.*627A>G
ENST00000636128.1:c.463A>G	ENSP00000489789.1:p.Ser155Gly
ENST00000636160.1:c.*676A>G	ENSP00000489651.1:n.*676A>G
ENST00000636171.1:c.727A>G	ENSP00000489761.1:p.Ser243Gly
ENST00000636455.1:c.832A>G	ENSP00000490502.1:p.Ser278Gly
ENST00000636494.1:c.*564A>G	ENSP00000490388.1:n.*564A>G
ENST00000636563.1:n.446A>G
ENST00000636577.1:c.724A>G	ENSP00000490027.1:p.Ser242Gly
ENST00000636691.1:c.589A>G	ENSP00000490725.1:p.Ser197Gly
ENST00000636701.1:c.*435A>G	ENSP00000489800.1:n.*435A>G
ENST00000636815.1:c.701A>G
ENST00000636920.1:c.*620A>G	ENSP00000490437.1:n.*620A>G
ENST00000636997.1:c.697A>G	ENSP00000490093.1:p.Ser233Gly
ENST00000637013.1:c.*1152A>G	ENSP00000490596.1:n.*1152A>G
ENST00000637014.1:n.1191A>G
ENST00000637095.1:c.*564A>G	ENSP00000490415.1:n.*564A>G
ENST00000637244.1:c.*1302A>G	ENSP00000490188.1:n.*1302A>G
ENST00000637343.1:n.2221A>G
ENST00000637429.1:c.*996A>G	ENSP00000490522.1:n.*996A>G
ENST00000637484.1:c.*746A>G	ENSP00000490837.1:n.*746A>G
ENST00000637528.1:c.721A>G	ENSP00000490801.1:p.Ser241Gly
ENST00000637609.1:n.3505A>G
ENST00000637636.1:c.778A>G	ENSP00000490112.1:p.Ser260Gly
ENST00000637790.2:c.784A>G MANE Select	ENSP00000490272.1:p.Ser262Gly
ENST00000637857.1:n.1150A>G
ENST00000637922.1:c.589A>G	ENSP00000490071.1:p.Ser197Gly
ENST00000637991.1:c.757A>G	ENSP00000489901.1:p.Ser253Gly
ENST00000638028.1:n.1001A>G
ENST00000638069.1:n.1605A>G
ENST00000262097.10:c.784A>G	ENSP00000262097.6:p.Ser262Gly
ENST00000314146.10:c.766A>G	ENSP00000326970.10:p.Ser256Gly
ENST00000381733.8:c.832A>G	ENSP00000371152.4:p.Ser278Gly
ENST00000519468.5:n.613A>G
ENST00000520781.5:c.709A>G	ENSP00000427751.1:p.Ser237Gly
ENST00000521542.1:n.497A>G
NM_001127505.1:c.766A>G	NP_001120977.1:p.Ser256Gly
NM_001127505.2:c.766A>G	NP_001120977.1:p.Ser256Gly
NM_004315.4:c.832A>G	NP_004306.3:p.Ser278Gly
NM_004315.5:c.832A>G	NP_004306.3:p.Ser278Gly
NM_177924.3:c.784A>G	NP_808592.2:p.Ser262Gly
NM_177924.4:c.784A>G	NP_808592.2:p.Ser262Gly
XM_005273504.2:c.718A>G	XP_005273561.1:p.Ser240Gly
NM_001363743.1:c.589A>G	NP_001350672.1:p.Ser197Gly
XM_005273504.3:c.718A>G	XP_005273561.1:p.Ser240Gly
NM_177924.5:c.784A>G MANE Select	NP_808592.2:p.Ser262Gly
NM_001127505.3:c.766A>G	NP_001120977.1:p.Ser256Gly
NM_001363743.2:c.589A>G	NP_001350672.1:p.Ser197Gly
NM_004315.6:c.832A>G	NP_004306.3:p.Ser278Gly