Canonical Allele Identifier: CA390745186

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934787G>A , CM000676.2:g.87934787G>A	GRCh38
NC_000014.8:g.88401131G>A , CM000676.1:g.88401131G>A	GRCh37
NC_000014.7:g.87470884G>A	NCBI36
NG_011853.2:g.63777C>T
NG_011853.3:g.63777C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.2003C>T MANE Select	NP_000144.2:p.Thr668Ile
ENST00000261304.7:c.2003C>T MANE Select	ENSP00000261304.2:p.Thr668Ile
NM_000153.3:c.2003C>T	NP_000144.2:p.Thr668Ile
NM_001201401.1:c.1934C>T	NP_001188330.1:p.Thr645Ile
NM_001201401.2:c.1934C>T	NP_001188330.1:p.Thr645Ile
NM_001201402.1:c.1925C>T	NP_001188331.1:p.Thr642Ile
NM_001201402.2:c.1925C>T	NP_001188331.1:p.Thr642Ile
ENST00000261304.6:c.2003C>T	ENSP00000261304.2:p.Thr668Ile
ENST00000393568.8:c.1934C>T	ENSP00000377198.4:p.Thr645Ile
ENST00000393569.6:c.1925C>T	ENSP00000377199.2:p.Thr642Ile
ENST00000544807.6:c.1744-788C>T	ENSP00000437513.2:n.1744-788C>T
ENST00000555000.5:c.1279-788C>T	ENSP00000450472.1:n.1279-788C>T
ENST00000555179.1:c.539C>T
XM_011536618.1:c.1835C>T	XP_011534920.1:p.Thr612Ile
XM_011536618.2:c.1835C>T	XP_011534920.1:p.Thr612Ile