Canonical Allele Identifier: CA7296881

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939918G>A , CM000676.2:g.87939918G>A	GRCh38
NC_000014.8:g.88406262G>A , CM000676.1:g.88406262G>A	GRCh37
NC_000014.7:g.87476015G>A	NCBI36
NG_011853.2:g.58646C>T
NG_011853.3:g.58646C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1898C>T MANE Select	NP_000144.2:p.Thr633Met
ENST00000261304.7:c.1898C>T MANE Select	ENSP00000261304.2:p.Thr633Met
NM_000153.3:c.1898C>T	NP_000144.2:p.Thr633Met
NM_001201401.1:c.1829C>T	NP_001188330.1:p.Thr610Met
NM_001201401.2:c.1829C>T	NP_001188330.1:p.Thr610Met
NM_001201402.1:c.1820C>T	NP_001188331.1:p.Thr607Met
NM_001201402.2:c.1820C>T	NP_001188331.1:p.Thr607Met
ENST00000261304.6:c.1898C>T	ENSP00000261304.2:p.Thr633Met
ENST00000393568.8:c.1829C>T	ENSP00000377198.4:p.Thr610Met
ENST00000393569.6:c.1820C>T	ENSP00000377199.2:p.Thr607Met
ENST00000544807.6:c.1730C>T	ENSP00000437513.2:p.Thr577Met
ENST00000555000.5:c.1265C>T	ENSP00000450472.1:p.Thr422Met
ENST00000555179.1:c.434C>T
XM_011536618.1:c.1730C>T	XP_011534920.1:p.Thr577Met
XM_011536618.2:c.1730C>T	XP_011534920.1:p.Thr577Met