Canonical Allele Identifier: CA390745190

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934788T>G , CM000676.2:g.87934788T>G	GRCh38
NC_000014.8:g.88401132T>G , CM000676.1:g.88401132T>G	GRCh37
NC_000014.7:g.87470885T>G	NCBI36
NG_011853.2:g.63776A>C
NG_011853.3:g.63776A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.2002A>C MANE Select	NP_000144.2:p.Thr668Pro
ENST00000261304.7:c.2002A>C MANE Select	ENSP00000261304.2:p.Thr668Pro
NM_000153.3:c.2002A>C	NP_000144.2:p.Thr668Pro
NM_001201401.1:c.1933A>C	NP_001188330.1:p.Thr645Pro
NM_001201401.2:c.1933A>C	NP_001188330.1:p.Thr645Pro
NM_001201402.1:c.1924A>C	NP_001188331.1:p.Thr642Pro
NM_001201402.2:c.1924A>C	NP_001188331.1:p.Thr642Pro
ENST00000261304.6:c.2002A>C	ENSP00000261304.2:p.Thr668Pro
ENST00000393568.8:c.1933A>C	ENSP00000377198.4:p.Thr645Pro
ENST00000393569.6:c.1924A>C	ENSP00000377199.2:p.Thr642Pro
ENST00000544807.6:c.1744-789A>C	ENSP00000437513.2:n.1744-789A>C
ENST00000555000.5:c.1279-789A>C	ENSP00000450472.1:n.1279-789A>C
ENST00000555179.1:c.538A>C
XM_011536618.1:c.1834A>C	XP_011534920.1:p.Thr612Pro
XM_011536618.2:c.1834A>C	XP_011534920.1:p.Thr612Pro