Canonical Allele Identifier: CA3206815323

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986501T= , CM000676.2:g.87986501T=	GRCh38
NC_000014.8:g.88452845T= , CM000676.1:g.88452845T=	GRCh37
NC_000014.7:g.87522598T=	NCBI36
NG_011853.2:g.12063A=
NG_011853.3:g.12063A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.430A= MANE Select	NP_000144.2:p.Ile144=
ENST00000261304.7:c.430A= MANE Select	ENSP00000261304.2:p.Ile144=
NM_000153.3:c.430A=	NP_000144.2:p.Ile144=
NM_001201401.1:c.361A=	NP_001188330.1:p.Ile121=
NM_001201401.2:c.361A=	NP_001188330.1:p.Ile121=
NM_001201402.1:c.352A=	NP_001188331.1:p.Ile118=
NM_001201402.2:c.352A=	NP_001188331.1:p.Ile118=
ENST00000261304.6:c.430A=	ENSP00000261304.2:p.Ile144=
ENST00000393568.8:c.361A=	ENSP00000377198.4:p.Ile121=
ENST00000393569.6:c.352A=	ENSP00000377199.2:p.Ile118=
ENST00000474294.6:n.420A=
ENST00000544807.6:c.262A=	ENSP00000437513.2:p.Ile88=
ENST00000554372.5:c.*179A=	ENSP00000451884.1:n.*179A=
ENST00000554916.5:n.309A=
ENST00000556261.5:n.131A=
ENST00000556879.5:c.490A=	ENSP00000452208.1:n.490A=
ENST00000557316.5:c.430A=	ENSP00000452314.1:p.Ile144=
ENST00000622264.4:c.420A=
XM_011536618.1:c.262A=	XP_011534920.1:p.Ile88=
XM_011536618.2:c.262A=	XP_011534920.1:p.Ile88=