Canonical Allele Identifier: CA2575595194

Gene: GALC

Linked Data

• gnomAD v4: 14-87976349-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976349A>G , CM000676.2:g.87976349A>G	GRCh38
NC_000014.8:g.88442693A>G , CM000676.1:g.88442693A>G	GRCh37
NC_000014.7:g.87512446A>G	NCBI36
NG_011853.2:g.22215T>C
NG_011853.3:g.22215T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.752+9T>C MANE Select	ENSP00000261304.2:n.752+9T>C
ENST00000261304.6:c.752+9T>C	ENSP00000261304.2:n.752+9T>C
ENST00000393568.8:c.683+9T>C	ENSP00000377198.4:n.683+9T>C
ENST00000393569.6:c.674+9T>C	ENSP00000377199.2:n.674+9T>C
ENST00000474294.6:n.742+9T>C
ENST00000477716.3:n.507+9T>C
ENST00000544807.6:c.584+9T>C	ENSP00000437513.2:n.584+9T>C
ENST00000555000.5:c.119+9T>C	ENSP00000450472.1:n.119+9T>C
ENST00000557316.5:c.*150+9T>C	ENSP00000452314.1:n.*150+9T>C
ENST00000622264.4:c.742+9T>C
NM_000153.3:c.752+9T>C	NP_000144.2:n.752+9T>C
NM_001201401.1:c.683+9T>C	NP_001188330.1:n.683+9T>C
NM_001201402.1:c.674+9T>C	NP_001188331.1:n.674+9T>C
XM_011536618.1:c.584+9T>C	XP_011534920.1:n.584+9T>C
XM_011536618.2:c.584+9T>C	XP_011534920.1:n.584+9T>C
NM_000153.4:c.752+9T>C MANE Select	NP_000144.2:n.752+9T>C
NM_001201401.2:c.683+9T>C	NP_001188330.1:n.683+9T>C
NM_001201402.2:c.674+9T>C	NP_001188331.1:n.674+9T>C