Canonical Allele Identifier: CA2625958175

Gene: GALC

Linked Data

• gnomAD v4: 14-87933295-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87933295T>C , CM000676.2:g.87933295T>C	GRCh38
NC_000014.8:g.88399639T>C , CM000676.1:g.88399639T>C	GRCh37
NC_000014.7:g.87469392T>C	NCBI36
NG_011853.2:g.65269A>G
NG_011853.3:g.65269A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.*1437A>G MANE Select	ENSP00000261304.2:n.*1437A>G
ENST00000261304.6:c.*1437A>G	ENSP00000261304.2:n.*1437A>G
ENST00000555000.5:c.*74+604A>G	ENSP00000450472.1:n.*74+604A>G
NM_000153.3:c.*1437A>G	NP_000144.2:n.*1437A>G
NM_001201401.1:c.*1437A>G	NP_001188330.1:n.*1437A>G
NM_001201402.1:c.*1437A>G	NP_001188331.1:n.*1437A>G
XM_011536618.1:c.*1437A>G	XP_011534920.1:n.*1437A>G
XM_011536618.2:c.*1437A>G	XP_011534920.1:n.*1437A>G
NM_000153.4:c.*1437A>G MANE Select	NP_000144.2:n.*1437A>G
NM_001201401.2:c.*1437A>G	NP_001188330.1:n.*1437A>G
NM_001201402.2:c.*1437A>G	NP_001188331.1:n.*1437A>G