Canonical Allele Identifier: CA2625958942

Gene: GALC

Linked Data

• gnomAD v4: 14-87934650-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934650C>T , CM000676.2:g.87934650C>T	GRCh38
NC_000014.8:g.88400994C>T , CM000676.1:g.88400994C>T	GRCh37
NC_000014.7:g.87470747C>T	NCBI36
NG_011853.2:g.63914G>A
NG_011853.3:g.63914G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.*82G>A MANE Select	ENSP00000261304.2:n.*82G>A
ENST00000261304.6:c.*82G>A	ENSP00000261304.2:n.*82G>A
ENST00000393569.6:c.*82G>A	ENSP00000377199.2:n.*82G>A
ENST00000544807.6:c.1744-651G>A	ENSP00000437513.2:n.1744-651G>A
ENST00000555000.5:c.1279-651G>A	ENSP00000450472.1:n.1279-651G>A
NM_000153.3:c.*82G>A	NP_000144.2:n.*82G>A
NM_001201401.1:c.*82G>A	NP_001188330.1:n.*82G>A
NM_001201402.1:c.*82G>A	NP_001188331.1:n.*82G>A
XM_011536618.1:c.*82G>A	XP_011534920.1:n.*82G>A
XM_011536618.2:c.*82G>A	XP_011534920.1:n.*82G>A
NM_000153.4:c.*82G>A MANE Select	NP_000144.2:n.*82G>A
NM_001201401.2:c.*82G>A	NP_001188330.1:n.*82G>A
NM_001201402.2:c.*82G>A	NP_001188331.1:n.*82G>A