Canonical Allele Identifier: CA2153386613

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986589G= , CM000676.2:g.87986589G=	GRCh38
NC_000014.8:g.88452933G= , CM000676.1:g.88452933G=	GRCh37
NC_000014.7:g.87522686G=	NCBI36
NG_011853.2:g.11975C=
NG_011853.3:g.11975C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.342C= MANE Select	ENSP00000261304.2:p.Pro114=
ENST00000261304.6:c.342C=	ENSP00000261304.2:p.Pro114=
ENST00000393568.8:c.273C=	ENSP00000377198.4:p.Pro91=
ENST00000393569.6:c.264C=	ENSP00000377199.2:p.Pro88=
ENST00000474294.6:n.332C=
ENST00000544807.6:c.174C=	ENSP00000437513.2:p.Pro58=
ENST00000554372.5:c.*91C=	ENSP00000451884.1:n.*91C=
ENST00000554916.5:n.221C=
ENST00000556261.5:n.43C=
ENST00000556879.5:c.402C=	ENSP00000452208.1:n.402C=
ENST00000557316.5:c.342C=	ENSP00000452314.1:p.Pro114=
ENST00000622264.4:c.332C=
NM_000153.3:c.342C=	NP_000144.2:p.Pro114=
NM_001201401.1:c.273C=	NP_001188330.1:p.Pro91=
NM_001201402.1:c.264C=	NP_001188331.1:p.Pro88=
XM_011536618.1:c.174C=	XP_011534920.1:p.Pro58=
XM_011536618.2:c.174C=	XP_011534920.1:p.Pro58=
NM_000153.4:c.342C= MANE Select	NP_000144.2:p.Pro114=
NM_001201401.2:c.273C=	NP_001188330.1:p.Pro91=
NM_001201402.2:c.264C=	NP_001188331.1:p.Pro88=