Canonical Allele Identifier: CA7297342

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984451G>A , CM000676.2:g.87984451G>A	GRCh38
NC_000014.8:g.88450795G>A , CM000676.1:g.88450795G>A	GRCh37
NC_000014.7:g.87520548G>A	NCBI36
NG_011853.2:g.14113C>T
NG_011853.3:g.14113C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.525C>T MANE Select	NP_000144.2:p.Val175=
ENST00000261304.7:c.525C>T MANE Select	ENSP00000261304.2:p.Val175=
NM_000153.3:c.525C>T	NP_000144.2:p.Val175=
NM_001201401.1:c.456C>T	NP_001188330.1:p.Val152=
NM_001201401.2:c.456C>T	NP_001188330.1:p.Val152=
NM_001201402.1:c.447C>T	NP_001188331.1:p.Val149=
NM_001201402.2:c.447C>T	NP_001188331.1:p.Val149=
ENST00000261304.6:c.525C>T	ENSP00000261304.2:p.Val175=
ENST00000393568.8:c.456C>T	ENSP00000377198.4:p.Val152=
ENST00000393569.6:c.447C>T	ENSP00000377199.2:p.Val149=
ENST00000474294.6:n.515C>T
ENST00000544807.6:c.357C>T	ENSP00000437513.2:p.Val119=
ENST00000554372.5:c.*274C>T	ENSP00000451884.1:n.*274C>T
ENST00000554916.5:n.404C>T
ENST00000556261.5:n.226C>T
ENST00000556879.5:c.585C>T	ENSP00000452208.1:n.585C>T
ENST00000557316.5:c.525C>T	ENSP00000452314.1:p.Val175=
ENST00000622264.4:c.515C>T
XM_011536618.1:c.357C>T	XP_011534920.1:p.Val119=
XM_011536618.2:c.357C>T	XP_011534920.1:p.Val119=