Canonical Allele Identifier: CA2153397322

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87992996C= , CM000676.2:g.87992996C=	GRCh38
NC_000014.8:g.88459340C= , CM000676.1:g.88459340C=	GRCh37
NC_000014.7:g.87529093C=	NCBI36
NG_011853.2:g.5568G=
NG_011853.3:g.5568G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.169G= MANE Select	NP_000144.2:p.Gly57=
ENST00000261304.7:c.169G= MANE Select	ENSP00000261304.2:p.Gly57=
NM_000153.3:c.169G=	NP_000144.2:p.Gly57=
NM_001201401.1:c.169G=	NP_001188330.1:p.Gly57=
NM_001201401.2:c.169G=	NP_001188330.1:p.Gly57=
NM_001201402.1:c.117+387G=	NP_001188331.1:n.117+387G=
NM_001201402.2:c.117+387G=	NP_001188331.1:n.117+387G=
ENST00000261304.6:c.169G=	ENSP00000261304.2:p.Gly57=
ENST00000393568.8:c.169G=	ENSP00000377198.4:p.Gly57=
ENST00000393569.6:c.117+387G=	ENSP00000377199.2:n.117+387G=
ENST00000474294.6:n.159G=
ENST00000554372.5:c.169G=	ENSP00000451884.1:p.Gly57=
ENST00000556879.5:c.127G=	ENSP00000452208.1:p.Gly43=
ENST00000557316.5:c.169G=	ENSP00000452314.1:p.Gly57=
ENST00000622264.4:c.159G=