Canonical Allele Identifier: CA2625958940

Gene: GALC

Linked Data

• gnomAD v4: 14-87934649-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934649C>A , CM000676.2:g.87934649C>A	GRCh38
NC_000014.8:g.88400993C>A , CM000676.1:g.88400993C>A	GRCh37
NC_000014.7:g.87470746C>A	NCBI36
NG_011853.2:g.63915G>T
NG_011853.3:g.63915G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.*83G>T MANE Select	ENSP00000261304.2:n.*83G>T
ENST00000261304.6:c.*83G>T	ENSP00000261304.2:n.*83G>T
ENST00000393569.6:c.*83G>T	ENSP00000377199.2:n.*83G>T
ENST00000544807.6:c.1744-650G>T	ENSP00000437513.2:n.1744-650G>T
ENST00000555000.5:c.1279-650G>T	ENSP00000450472.1:n.1279-650G>T
NM_000153.3:c.*83G>T	NP_000144.2:n.*83G>T
NM_001201401.1:c.*83G>T	NP_001188330.1:n.*83G>T
NM_001201402.1:c.*83G>T	NP_001188331.1:n.*83G>T
XM_011536618.1:c.*83G>T	XP_011534920.1:n.*83G>T
XM_011536618.2:c.*83G>T	XP_011534920.1:n.*83G>T
NM_000153.4:c.*83G>T MANE Select	NP_000144.2:n.*83G>T
NM_001201401.2:c.*83G>T	NP_001188330.1:n.*83G>T
NM_001201402.2:c.*83G>T	NP_001188331.1:n.*83G>T