Canonical Allele Identifier: CA487366298

Gene: GALC

Linked Data

• ClinVar Variation Id: 1608562
• ClinVar RCV Id: RCV002162958
• dbSNP Id: rs2140016397
• gnomAD v4: 14-87976456-G-A
• MyVariant Identifiers: chr14:g.88442800G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976456G>A , CM000676.2:g.87976456G>A	GRCh38
NC_000014.8:g.88442800G>A , CM000676.1:g.88442800G>A	GRCh37
NC_000014.7:g.87512553G>A	NCBI36
NG_011853.2:g.22108C>T
NG_011853.3:g.22108C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.654C>T MANE Select	ENSP00000261304.2:p.Leu218=
ENST00000261304.6:c.654C>T	ENSP00000261304.2:p.Leu218=
ENST00000393568.8:c.585C>T	ENSP00000377198.4:p.Leu195=
ENST00000393569.6:c.576C>T	ENSP00000377199.2:p.Leu192=
ENST00000474294.6:n.644C>T
ENST00000477716.3:n.409C>T
ENST00000544807.6:c.486C>T	ENSP00000437513.2:p.Leu162=
ENST00000554916.5:n.533C>T
ENST00000555000.5:c.21C>T	ENSP00000450472.1:p.Leu7=
ENST00000557316.5:c.*52C>T	ENSP00000452314.1:n.*52C>T
ENST00000622264.4:c.644C>T
NM_000153.3:c.654C>T	NP_000144.2:p.Leu218=
NM_001201401.1:c.585C>T	NP_001188330.1:p.Leu195=
NM_001201402.1:c.576C>T	NP_001188331.1:p.Leu192=
XM_011536618.1:c.486C>T	XP_011534920.1:p.Leu162=
XM_011536618.2:c.486C>T	XP_011534920.1:p.Leu162=
NM_000153.4:c.654C>T MANE Select	NP_000144.2:p.Leu218=
NM_001201401.2:c.585C>T	NP_001188330.1:p.Leu195=
NM_001201402.2:c.576C>T	NP_001188331.1:p.Leu192=