Canonical Allele Identifier: CA390745092

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88401090C>A (hg19) ; chr14:g.87934746C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934746C>A , CM000676.2:g.87934746C>A	GRCh38
NC_000014.8:g.88401090C>A , CM000676.1:g.88401090C>A	GRCh37
NC_000014.7:g.87470843C>A	NCBI36
NG_011853.2:g.63818G>T
NG_011853.3:g.63818G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.2044G>T MANE Select	ENSP00000261304.2:p.Glu682Ter
ENST00000261304.6:c.2044G>T	ENSP00000261304.2:p.Glu682Ter
ENST00000393568.8:c.1975G>T	ENSP00000377198.4:p.Glu659Ter
ENST00000393569.6:c.1966G>T	ENSP00000377199.2:p.Glu656Ter
ENST00000544807.6:c.1744-747G>T	ENSP00000437513.2:n.1744-747G>T
ENST00000555000.5:c.1279-747G>T	ENSP00000450472.1:n.1279-747G>T
NM_000153.3:c.2044G>T	NP_000144.2:p.Glu682Ter
NM_001201401.1:c.1975G>T	NP_001188330.1:p.Glu659Ter
NM_001201402.1:c.1966G>T	NP_001188331.1:p.Glu656Ter
XM_011536618.1:c.1876G>T	XP_011534920.1:p.Glu626Ter
XM_011536618.2:c.1876G>T	XP_011534920.1:p.Glu626Ter
NM_000153.4:c.2044G>T MANE Select	NP_000144.2:p.Glu682Ter
NM_001201401.2:c.1975G>T	NP_001188330.1:p.Glu659Ter
NM_001201402.2:c.1966G>T	NP_001188331.1:p.Glu656Ter