Canonical Allele Identifier: CA390746360

Gene: GALC

Linked Data

• ClinVar Variation Id: 2089020
• ClinVar RCV Id: RCV003018245
• MyVariant Identifiers: chr14:g.88414071C>G (hg19) ; chr14:g.87947727C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947727C>G , CM000676.2:g.87947727C>G	GRCh38
NC_000014.8:g.88414071C>G , CM000676.1:g.88414071C>G	GRCh37
NC_000014.7:g.87483824C>G	NCBI36
NG_011853.2:g.50837G>C
NG_011853.3:g.50837G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1489+1G>C MANE Select	ENSP00000261304.2:n.1489+1G>C
ENST00000261304.6:c.1489+1G>C	ENSP00000261304.2:n.1489+1G>C
ENST00000393568.8:c.1420+1G>C	ENSP00000377198.4:n.1420+1G>C
ENST00000393569.6:c.1411+1G>C	ENSP00000377199.2:n.1411+1G>C
ENST00000544807.6:c.1321+1G>C	ENSP00000437513.2:n.1321+1G>C
ENST00000555000.5:c.856+1G>C	ENSP00000450472.1:n.856+1G>C
ENST00000555179.1:c.206+1G>C
ENST00000557316.5:c.*887+1G>C	ENSP00000452314.1:n.*887+1G>C
NM_000153.3:c.1489+1G>C	NP_000144.2:n.1489+1G>C
NM_001201401.1:c.1420+1G>C	NP_001188330.1:n.1420+1G>C
NM_001201402.1:c.1411+1G>C	NP_001188331.1:n.1411+1G>C
XM_011536618.1:c.1321+1G>C	XP_011534920.1:n.1321+1G>C
XM_011536618.2:c.1321+1G>C	XP_011534920.1:n.1321+1G>C
NM_000153.4:c.1489+1G>C MANE Select	NP_000144.2:n.1489+1G>C
NM_001201401.2:c.1420+1G>C	NP_001188330.1:n.1420+1G>C
NM_001201402.2:c.1411+1G>C	NP_001188331.1:n.1411+1G>C