Canonical Allele Identifier: CA390747226

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87963438G>C , CM000676.2:g.87963438G>C	GRCh38
NC_000014.8:g.88429782G>C , CM000676.1:g.88429782G>C	GRCh37
NC_000014.7:g.87499535G>C	NCBI36
NG_011853.2:g.35126C>G
NG_011853.3:g.35126C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1107C>G MANE Select	NP_000144.2:p.Ser369Arg
ENST00000261304.7:c.1107C>G MANE Select	ENSP00000261304.2:p.Ser369Arg
NM_000153.3:c.1107C>G	NP_000144.2:p.Ser369Arg
NM_001201401.1:c.1038C>G	NP_001188330.1:p.Ser346Arg
NM_001201401.2:c.1038C>G	NP_001188330.1:p.Ser346Arg
NM_001201402.1:c.1029C>G	NP_001188331.1:p.Ser343Arg
NM_001201402.2:c.1029C>G	NP_001188331.1:p.Ser343Arg
ENST00000261304.6:c.1107C>G	ENSP00000261304.2:p.Ser369Arg
ENST00000393568.8:c.1038C>G	ENSP00000377198.4:p.Ser346Arg
ENST00000393569.6:c.1029C>G	ENSP00000377199.2:p.Ser343Arg
ENST00000474294.6:n.1097C>G
ENST00000544807.6:c.939C>G	ENSP00000437513.2:p.Ser313Arg
ENST00000555000.5:c.474C>G	ENSP00000450472.1:p.Ser158Arg
ENST00000557316.5:c.*505C>G	ENSP00000452314.1:n.*505C>G
ENST00000557520.1:n.193C>G
ENST00000622264.4:c.1097C>G
XM_011536618.1:c.939C>G	XP_011534920.1:p.Ser313Arg
XM_011536618.2:c.939C>G	XP_011534920.1:p.Ser313Arg