Canonical Allele Identifier: CA370427378

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18059385G>A , CM000670.2:g.18059385G>A	GRCh38
NC_000008.10:g.17916894G>A , CM000670.1:g.17916894G>A	GRCh37
NC_000008.9:g.17961174G>A	NCBI36
NG_008985.1:g.30614C>T
NG_008985.2:g.30614C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.997C>T MANE Select	NP_808592.2:p.Arg333Cys
ENST00000637790.2:c.997C>T MANE Select	ENSP00000490272.1:p.Arg333Cys
NM_001127505.1:c.979C>T	NP_001120977.1:p.Arg327Cys
NM_001127505.2:c.979C>T	NP_001120977.1:p.Arg327Cys
NM_001127505.3:c.979C>T	NP_001120977.1:p.Arg327Cys
NM_001363743.1:c.802C>T	NP_001350672.1:p.Arg268Cys
NM_001363743.2:c.802C>T	NP_001350672.1:p.Arg268Cys
NM_004315.4:c.1045C>T	NP_004306.3:p.Arg349Cys
NM_004315.5:c.1045C>T	NP_004306.3:p.Arg349Cys
NM_004315.6:c.1045C>T	NP_004306.3:p.Arg349Cys
NM_177924.3:c.997C>T	NP_808592.2:p.Arg333Cys
NM_177924.4:c.997C>T	NP_808592.2:p.Arg333Cys
ENST00000262097.10:c.997C>T	ENSP00000262097.6:p.Arg333Cys
ENST00000314146.10:c.979C>T	ENSP00000326970.10:p.Arg327Cys
ENST00000381733.8:c.1045C>T	ENSP00000371152.4:p.Arg349Cys
ENST00000381733.9:c.1045C>T	ENSP00000371152.4:p.Arg349Cys
ENST00000518746.2:n.2683C>T
ENST00000520781.5:c.922C>T	ENSP00000427751.1:p.Arg308Cys
ENST00000520781.6:c.922C>T	ENSP00000427751.1:p.Arg308Cys
ENST00000635756.1:c.410C>T
ENST00000635944.1:c.*833C>T	ENSP00000490195.1:n.*833C>T
ENST00000635998.1:c.997C>T	ENSP00000490506.1:p.Arg333Cys
ENST00000636009.1:c.854C>T	ENSP00000489988.1:n.854C>T
ENST00000636033.1:c.*833C>T	ENSP00000489617.1:n.*833C>T
ENST00000636050.1:c.*840C>T	ENSP00000490562.1:n.*840C>T
ENST00000636128.1:c.676C>T	ENSP00000489789.1:p.Arg226Cys
ENST00000636160.1:c.*889C>T	ENSP00000489651.1:n.*889C>T
ENST00000636171.1:c.940C>T	ENSP00000489761.1:p.Arg314Cys
ENST00000636455.1:c.965+187C>T	ENSP00000490502.1:n.965+187C>T
ENST00000636494.1:c.*777C>T	ENSP00000490388.1:n.*777C>T
ENST00000636563.1:n.659C>T
ENST00000636577.1:c.937C>T	ENSP00000490027.1:p.Arg313Cys
ENST00000636691.1:c.802C>T	ENSP00000490725.1:p.Arg268Cys
ENST00000636701.1:c.*648C>T	ENSP00000489800.1:n.*648C>T
ENST00000636815.1:c.914C>T
ENST00000636920.1:c.*833C>T	ENSP00000490437.1:n.*833C>T
ENST00000636997.1:c.910C>T	ENSP00000490093.1:p.Arg304Cys
ENST00000637013.1:c.*1365C>T	ENSP00000490596.1:n.*1365C>T
ENST00000637014.1:n.1404C>T
ENST00000637095.1:c.*777C>T	ENSP00000490415.1:n.*777C>T
ENST00000637244.1:c.*1515C>T	ENSP00000490188.1:n.*1515C>T
ENST00000637343.1:n.2434C>T
ENST00000637429.1:c.*1209C>T	ENSP00000490522.1:n.*1209C>T
ENST00000637484.1:c.*959C>T	ENSP00000490837.1:n.*959C>T
ENST00000637528.1:c.934C>T	ENSP00000490801.1:p.Arg312Cys
ENST00000637609.1:n.3718C>T
ENST00000637636.1:c.991C>T	ENSP00000490112.1:p.Arg331Cys
ENST00000637857.1:n.1363C>T
ENST00000637922.1:c.802C>T	ENSP00000490071.1:p.Arg268Cys
ENST00000637991.1:c.970C>T	ENSP00000489901.1:p.Arg324Cys
ENST00000638028.1:n.1214C>T
ENST00000638069.1:n.1818C>T
XM_005273504.2:c.931C>T	XP_005273561.1:p.Arg311Cys
XM_005273504.3:c.931C>T	XP_005273561.1:p.Arg311Cys