Canonical Allele Identifier: CA2625958943

Gene: GALC

Linked Data

• gnomAD v4: 14-87934652-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934652A>C , CM000676.2:g.87934652A>C	GRCh38
NC_000014.8:g.88400996A>C , CM000676.1:g.88400996A>C	GRCh37
NC_000014.7:g.87470749A>C	NCBI36
NG_011853.2:g.63912T>G
NG_011853.3:g.63912T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.*80T>G MANE Select	ENSP00000261304.2:n.*80T>G
ENST00000261304.6:c.*80T>G	ENSP00000261304.2:n.*80T>G
ENST00000393569.6:c.*80T>G	ENSP00000377199.2:n.*80T>G
ENST00000544807.6:c.1744-653T>G	ENSP00000437513.2:n.1744-653T>G
ENST00000555000.5:c.1279-653T>G	ENSP00000450472.1:n.1279-653T>G
NM_000153.3:c.*80T>G	NP_000144.2:n.*80T>G
NM_001201401.1:c.*80T>G	NP_001188330.1:n.*80T>G
NM_001201402.1:c.*80T>G	NP_001188331.1:n.*80T>G
XM_011536618.1:c.*80T>G	XP_011534920.1:n.*80T>G
XM_011536618.2:c.*80T>G	XP_011534920.1:n.*80T>G
NM_000153.4:c.*80T>G MANE Select	NP_000144.2:n.*80T>G
NM_001201401.2:c.*80T>G	NP_001188330.1:n.*80T>G
NM_001201402.2:c.*80T>G	NP_001188331.1:n.*80T>G