Canonical Allele Identifier: CA265469438

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87992990C>A , CM000676.2:g.87992990C>A	GRCh38
NC_000014.8:g.88459334C>A , CM000676.1:g.88459334C>A	GRCh37
NC_000014.7:g.87529087C>A	NCBI36
NG_011853.2:g.5574G>T
NG_011853.3:g.5574G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.175G>T MANE Select	NP_000144.2:p.Gly59Cys
ENST00000261304.7:c.175G>T MANE Select	ENSP00000261304.2:p.Gly59Cys
NM_000153.3:c.175G>T	NP_000144.2:p.Gly59Cys
NM_001201401.1:c.175G>T	NP_001188330.1:p.Gly59Cys
NM_001201401.2:c.175G>T	NP_001188330.1:p.Gly59Cys
NM_001201402.1:c.117+393G>T	NP_001188331.1:n.117+393G>T
NM_001201402.2:c.117+393G>T	NP_001188331.1:n.117+393G>T
ENST00000261304.6:c.175G>T	ENSP00000261304.2:p.Gly59Cys
ENST00000393568.8:c.175G>T	ENSP00000377198.4:p.Gly59Cys
ENST00000393569.6:c.117+393G>T	ENSP00000377199.2:n.117+393G>T
ENST00000474294.6:n.165G>T
ENST00000554372.5:c.175G>T	ENSP00000451884.1:p.Gly59Cys
ENST00000556879.5:c.133G>T	ENSP00000452208.1:p.Gly45Cys
ENST00000557316.5:c.175G>T	ENSP00000452314.1:p.Gly59Cys
ENST00000622264.4:c.165G>T