Canonical Allele Identifier: CA2802491765

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934666G>A , CM000676.2:g.87934666G>A	GRCh38
NC_000014.8:g.88401010G>A , CM000676.1:g.88401010G>A	GRCh37
NC_000014.7:g.87470763G>A	NCBI36
NG_011853.2:g.63898C>T
NG_011853.3:g.63898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.*66C>T MANE Select	ENSP00000261304.2:n.*66C>T
ENST00000261304.6:c.*66C>T	ENSP00000261304.2:n.*66C>T
ENST00000393569.6:c.*66C>T	ENSP00000377199.2:n.*66C>T
ENST00000544807.6:c.1744-667C>T	ENSP00000437513.2:n.1744-667C>T
ENST00000555000.5:c.1279-667C>T	ENSP00000450472.1:n.1279-667C>T
NM_000153.3:c.*66C>T	NP_000144.2:n.*66C>T
NM_001201401.1:c.*66C>T	NP_001188330.1:n.*66C>T
NM_001201402.1:c.*66C>T	NP_001188331.1:n.*66C>T
XM_011536618.1:c.*66C>T	XP_011534920.1:n.*66C>T
XM_011536618.2:c.*66C>T	XP_011534920.1:n.*66C>T
NM_000153.4:c.*66C>T MANE Select	NP_000144.2:n.*66C>T
NM_001201401.2:c.*66C>T	NP_001188330.1:n.*66C>T
NM_001201402.2:c.*66C>T	NP_001188331.1:n.*66C>T