Canonical Allele Identifier: CA264708183

Gene: GALC

Linked Data

• dbSNP Id: rs987818562
• gnomAD v3: 14-87976110-C-G
• gnomAD v4: 14-87976110-C-G
• MyVariant Identifiers: chr14:g.88442454C>G (hg19) ; chr14:g.87976110C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976110C>G , CM000676.2:g.87976110C>G	GRCh38
NC_000014.8:g.88442454C>G , CM000676.1:g.88442454C>G	GRCh37
NC_000014.7:g.87512207C>G	NCBI36
NG_011853.2:g.22454G>C
NG_011853.3:g.22454G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.752+248G>C MANE Select	ENSP00000261304.2:n.752+248G>C
ENST00000261304.6:c.752+248G>C	ENSP00000261304.2:n.752+248G>C
ENST00000393568.8:c.683+248G>C	ENSP00000377198.4:n.683+248G>C
ENST00000393569.6:c.674+248G>C	ENSP00000377199.2:n.674+248G>C
ENST00000474294.6:n.742+248G>C
ENST00000477716.3:n.507+248G>C
ENST00000544807.6:c.584+248G>C	ENSP00000437513.2:n.584+248G>C
ENST00000555000.5:c.119+248G>C	ENSP00000450472.1:n.119+248G>C
ENST00000557316.5:c.*150+248G>C	ENSP00000452314.1:n.*150+248G>C
ENST00000622264.4:c.742+248G>C
NM_000153.3:c.752+248G>C	NP_000144.2:n.752+248G>C
NM_001201401.1:c.683+248G>C	NP_001188330.1:n.683+248G>C
NM_001201402.1:c.674+248G>C	NP_001188331.1:n.674+248G>C
XM_011536618.1:c.584+248G>C	XP_011534920.1:n.584+248G>C
XM_011536618.2:c.584+248G>C	XP_011534920.1:n.584+248G>C
NM_000153.4:c.752+248G>C MANE Select	NP_000144.2:n.752+248G>C
NM_001201401.2:c.683+248G>C	NP_001188330.1:n.683+248G>C
NM_001201402.2:c.674+248G>C	NP_001188331.1:n.674+248G>C