Canonical Allele Identifier: CA2625958948

Gene: GALC

Linked Data

• gnomAD v4: 14-87934670-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934670C>G , CM000676.2:g.87934670C>G	GRCh38
NC_000014.8:g.88401014C>G , CM000676.1:g.88401014C>G	GRCh37
NC_000014.7:g.87470767C>G	NCBI36
NG_011853.2:g.63894G>C
NG_011853.3:g.63894G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.*62G>C MANE Select	ENSP00000261304.2:n.*62G>C
ENST00000261304.6:c.*62G>C	ENSP00000261304.2:n.*62G>C
ENST00000393569.6:c.*62G>C	ENSP00000377199.2:n.*62G>C
ENST00000544807.6:c.1744-671G>C	ENSP00000437513.2:n.1744-671G>C
ENST00000555000.5:c.1279-671G>C	ENSP00000450472.1:n.1279-671G>C
NM_000153.3:c.*62G>C	NP_000144.2:n.*62G>C
NM_001201401.1:c.*62G>C	NP_001188330.1:n.*62G>C
NM_001201402.1:c.*62G>C	NP_001188331.1:n.*62G>C
XM_011536618.1:c.*62G>C	XP_011534920.1:n.*62G>C
XM_011536618.2:c.*62G>C	XP_011534920.1:n.*62G>C
NM_000153.4:c.*62G>C MANE Select	NP_000144.2:n.*62G>C
NM_001201401.2:c.*62G>C	NP_001188330.1:n.*62G>C
NM_001201402.2:c.*62G>C	NP_001188331.1:n.*62G>C