Canonical Allele Identifier: CA370429312

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918909T>A (hg19) ; chr8:g.18061400T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061400T>A , CM000670.2:g.18061400T>A	GRCh38
NC_000008.10:g.17918909T>A , CM000670.1:g.17918909T>A	GRCh37
NC_000008.9:g.17963189T>A	NCBI36
NG_008985.1:g.28599A>T
NG_008985.2:g.28599A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.810A>T	ENSP00000371152.4:p.Arg270Ser
ENST00000517409.2:n.730A>T
ENST00000518746.2:n.2448A>T
ENST00000520781.6:c.687A>T	ENSP00000427751.1:p.Arg229Ser
ENST00000521542.2:n.70A>T
ENST00000635756.1:c.175A>T
ENST00000635944.1:c.*598A>T	ENSP00000490195.1:n.*598A>T
ENST00000635998.1:c.762A>T	ENSP00000490506.1:p.Arg254Ser
ENST00000636009.1:c.619A>T	ENSP00000489988.1:n.619A>T
ENST00000636033.1:c.*598A>T	ENSP00000489617.1:n.*598A>T
ENST00000636050.1:c.*605A>T	ENSP00000490562.1:n.*605A>T
ENST00000636128.1:c.441A>T	ENSP00000489789.1:p.Arg147Ser
ENST00000636160.1:c.*654A>T	ENSP00000489651.1:n.*654A>T
ENST00000636171.1:c.705A>T	ENSP00000489761.1:p.Arg235Ser
ENST00000636455.1:c.810A>T	ENSP00000490502.1:p.Arg270Ser
ENST00000636494.1:c.*542A>T	ENSP00000490388.1:n.*542A>T
ENST00000636563.1:n.424A>T
ENST00000636577.1:c.702A>T	ENSP00000490027.1:p.Arg234Ser
ENST00000636691.1:c.567A>T	ENSP00000490725.1:p.Arg189Ser
ENST00000636701.1:c.*413A>T	ENSP00000489800.1:n.*413A>T
ENST00000636815.1:c.679A>T
ENST00000636920.1:c.*598A>T	ENSP00000490437.1:n.*598A>T
ENST00000636997.1:c.675A>T	ENSP00000490093.1:p.Arg225Ser
ENST00000637013.1:c.*1130A>T	ENSP00000490596.1:n.*1130A>T
ENST00000637014.1:n.1169A>T
ENST00000637095.1:c.*542A>T	ENSP00000490415.1:n.*542A>T
ENST00000637244.1:c.*1280A>T	ENSP00000490188.1:n.*1280A>T
ENST00000637343.1:n.2199A>T
ENST00000637429.1:c.*974A>T	ENSP00000490522.1:n.*974A>T
ENST00000637484.1:c.*724A>T	ENSP00000490837.1:n.*724A>T
ENST00000637528.1:c.699A>T	ENSP00000490801.1:p.Arg233Ser
ENST00000637609.1:n.3483A>T
ENST00000637636.1:c.756A>T	ENSP00000490112.1:p.Arg252Ser
ENST00000637790.2:c.762A>T MANE Select	ENSP00000490272.1:p.Arg254Ser
ENST00000637857.1:n.1128A>T
ENST00000637922.1:c.567A>T	ENSP00000490071.1:p.Arg189Ser
ENST00000637991.1:c.735A>T	ENSP00000489901.1:p.Arg245Ser
ENST00000638028.1:n.979A>T
ENST00000638069.1:n.1583A>T
ENST00000262097.10:c.762A>T	ENSP00000262097.6:p.Arg254Ser
ENST00000314146.10:c.744A>T	ENSP00000326970.10:p.Arg248Ser
ENST00000381733.8:c.810A>T	ENSP00000371152.4:p.Arg270Ser
ENST00000518746.1:n.579A>T
ENST00000519468.5:n.591A>T
ENST00000520781.5:c.687A>T	ENSP00000427751.1:p.Arg229Ser
ENST00000521542.1:n.475A>T
NM_001127505.1:c.744A>T	NP_001120977.1:p.Arg248Ser
NM_001127505.2:c.744A>T	NP_001120977.1:p.Arg248Ser
NM_004315.4:c.810A>T	NP_004306.3:p.Arg270Ser
NM_004315.5:c.810A>T	NP_004306.3:p.Arg270Ser
NM_177924.3:c.762A>T	NP_808592.2:p.Arg254Ser
NM_177924.4:c.762A>T	NP_808592.2:p.Arg254Ser
XM_005273504.2:c.696A>T	XP_005273561.1:p.Arg232Ser
NM_001363743.1:c.567A>T	NP_001350672.1:p.Arg189Ser
XM_005273504.3:c.696A>T	XP_005273561.1:p.Arg232Ser
NM_177924.5:c.762A>T MANE Select	NP_808592.2:p.Arg254Ser
NM_001127505.3:c.744A>T	NP_001120977.1:p.Arg248Ser
NM_001363743.2:c.567A>T	NP_001350672.1:p.Arg189Ser
NM_004315.6:c.810A>T	NP_004306.3:p.Arg270Ser