Canonical Allele Identifier: CA370429240

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18061378-T-G
• MyVariant Identifiers: chr8:g.17918887T>G (hg19) ; chr8:g.18061378T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.832A>C	ENSP00000371152.4:p.Ser278Arg
ENST00000518746.2:n.2470A>C
ENST00000520781.6:c.709A>C	ENSP00000427751.1:p.Ser237Arg
ENST00000521542.2:n.92A>C
ENST00000635756.1:c.197A>C
ENST00000635944.1:c.*620A>C	ENSP00000490195.1:n.*620A>C
ENST00000635998.1:c.784A>C	ENSP00000490506.1:p.Ser262Arg
ENST00000636009.1:c.641A>C	ENSP00000489988.1:n.641A>C
ENST00000636033.1:c.*620A>C	ENSP00000489617.1:n.*620A>C
ENST00000636050.1:c.*627A>C	ENSP00000490562.1:n.*627A>C
ENST00000636128.1:c.463A>C	ENSP00000489789.1:p.Ser155Arg
ENST00000636160.1:c.*676A>C	ENSP00000489651.1:n.*676A>C
ENST00000636171.1:c.727A>C	ENSP00000489761.1:p.Ser243Arg
ENST00000636455.1:c.832A>C	ENSP00000490502.1:p.Ser278Arg
ENST00000636494.1:c.*564A>C	ENSP00000490388.1:n.*564A>C
ENST00000636563.1:n.446A>C
ENST00000636577.1:c.724A>C	ENSP00000490027.1:p.Ser242Arg
ENST00000636691.1:c.589A>C	ENSP00000490725.1:p.Ser197Arg
ENST00000636701.1:c.*435A>C	ENSP00000489800.1:n.*435A>C
ENST00000636815.1:c.701A>C
ENST00000636920.1:c.*620A>C	ENSP00000490437.1:n.*620A>C
ENST00000636997.1:c.697A>C	ENSP00000490093.1:p.Ser233Arg
ENST00000637013.1:c.*1152A>C	ENSP00000490596.1:n.*1152A>C
ENST00000637014.1:n.1191A>C
ENST00000637095.1:c.*564A>C	ENSP00000490415.1:n.*564A>C
ENST00000637244.1:c.*1302A>C	ENSP00000490188.1:n.*1302A>C
ENST00000637343.1:n.2221A>C
ENST00000637429.1:c.*996A>C	ENSP00000490522.1:n.*996A>C
ENST00000637484.1:c.*746A>C	ENSP00000490837.1:n.*746A>C
ENST00000637528.1:c.721A>C	ENSP00000490801.1:p.Ser241Arg
ENST00000637609.1:n.3505A>C
ENST00000637636.1:c.778A>C	ENSP00000490112.1:p.Ser260Arg
ENST00000637790.2:c.784A>C MANE Select	ENSP00000490272.1:p.Ser262Arg
ENST00000637857.1:n.1150A>C
ENST00000637922.1:c.589A>C	ENSP00000490071.1:p.Ser197Arg
ENST00000637991.1:c.757A>C	ENSP00000489901.1:p.Ser253Arg
ENST00000638028.1:n.1001A>C
ENST00000638069.1:n.1605A>C
ENST00000262097.10:c.784A>C	ENSP00000262097.6:p.Ser262Arg
ENST00000314146.10:c.766A>C	ENSP00000326970.10:p.Ser256Arg
ENST00000381733.8:c.832A>C	ENSP00000371152.4:p.Ser278Arg
ENST00000519468.5:n.613A>C
ENST00000520781.5:c.709A>C	ENSP00000427751.1:p.Ser237Arg
ENST00000521542.1:n.497A>C
NM_001127505.1:c.766A>C	NP_001120977.1:p.Ser256Arg
NM_001127505.2:c.766A>C	NP_001120977.1:p.Ser256Arg
NM_004315.4:c.832A>C	NP_004306.3:p.Ser278Arg
NM_004315.5:c.832A>C	NP_004306.3:p.Ser278Arg
NM_177924.3:c.784A>C	NP_808592.2:p.Ser262Arg
NM_177924.4:c.784A>C	NP_808592.2:p.Ser262Arg
XM_005273504.2:c.718A>C	XP_005273561.1:p.Ser240Arg
NM_001363743.1:c.589A>C	NP_001350672.1:p.Ser197Arg
XM_005273504.3:c.718A>C	XP_005273561.1:p.Ser240Arg
NM_177924.5:c.784A>C MANE Select	NP_808592.2:p.Ser262Arg
NM_001127505.3:c.766A>C	NP_001120977.1:p.Ser256Arg
NM_001363743.2:c.589A>C	NP_001350672.1:p.Ser197Arg
NM_004315.6:c.832A>C	NP_004306.3:p.Ser278Arg