Canonical Allele Identifier: CA390746452

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947767G>A , CM000676.2:g.87947767G>A	GRCh38
NC_000014.8:g.88414111G>A , CM000676.1:g.88414111G>A	GRCh37
NC_000014.7:g.87483864G>A	NCBI36
NG_011853.2:g.50797C>T
NG_011853.3:g.50797C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1450C>T MANE Select	NP_000144.2:p.Gln484Ter
ENST00000261304.7:c.1450C>T MANE Select	ENSP00000261304.2:p.Gln484Ter
NM_000153.3:c.1450C>T	NP_000144.2:p.Gln484Ter
NM_001201401.1:c.1381C>T	NP_001188330.1:p.Gln461Ter
NM_001201401.2:c.1381C>T	NP_001188330.1:p.Gln461Ter
NM_001201402.1:c.1372C>T	NP_001188331.1:p.Gln458Ter
NM_001201402.2:c.1372C>T	NP_001188331.1:p.Gln458Ter
ENST00000261304.6:c.1450C>T	ENSP00000261304.2:p.Gln484Ter
ENST00000393568.8:c.1381C>T	ENSP00000377198.4:p.Gln461Ter
ENST00000393569.6:c.1372C>T	ENSP00000377199.2:p.Gln458Ter
ENST00000544807.6:c.1282C>T	ENSP00000437513.2:p.Gln428Ter
ENST00000555000.5:c.817C>T	ENSP00000450472.1:p.Gln273Ter
ENST00000555179.1:c.167C>T
ENST00000557316.5:c.*848C>T	ENSP00000452314.1:n.*848C>T
XM_011536618.1:c.1282C>T	XP_011534920.1:p.Gln428Ter
XM_011536618.2:c.1282C>T	XP_011534920.1:p.Gln428Ter