Canonical Allele Identifier: CA2153386590

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986545T= , CM000676.2:g.87986545T=	GRCh38
NC_000014.8:g.88452889T= , CM000676.1:g.88452889T=	GRCh37
NC_000014.7:g.87522642T=	NCBI36
NG_011853.2:g.12019A=
NG_011853.3:g.12019A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.386A= MANE Select	ENSP00000261304.2:p.Tyr129=
ENST00000261304.6:c.386A=	ENSP00000261304.2:p.Tyr129=
ENST00000393568.8:c.317A=	ENSP00000377198.4:p.Tyr106=
ENST00000393569.6:c.308A=	ENSP00000377199.2:p.Tyr103=
ENST00000474294.6:n.376A=
ENST00000544807.6:c.218A=	ENSP00000437513.2:p.Tyr73=
ENST00000554372.5:c.*135A=	ENSP00000451884.1:n.*135A=
ENST00000554916.5:n.265A=
ENST00000556261.5:n.87A=
ENST00000556879.5:c.446A=	ENSP00000452208.1:n.446A=
ENST00000557316.5:c.386A=	ENSP00000452314.1:p.Tyr129=
ENST00000622264.4:c.376A=
NM_000153.3:c.386A=	NP_000144.2:p.Tyr129=
NM_001201401.1:c.317A=	NP_001188330.1:p.Tyr106=
NM_001201402.1:c.308A=	NP_001188331.1:p.Tyr103=
XM_011536618.1:c.218A=	XP_011534920.1:p.Tyr73=
XM_011536618.2:c.218A=	XP_011534920.1:p.Tyr73=
NM_000153.4:c.386A= MANE Select	NP_000144.2:p.Tyr129=
NM_001201401.2:c.317A=	NP_001188330.1:p.Tyr106=
NM_001201402.2:c.308A=	NP_001188331.1:p.Tyr103=