Canonical Allele Identifier: CA487366335

Gene: GALC

Linked Data

• ClinVar Variation Id: 550179
• ClinVar RCV Id: RCV000664849 ; RCV001193605 ; RCV003886427
• dbSNP Id: rs1428763453
• gnomAD v2: 14-88448549-C-T
• gnomAD v4: 14-87982205-C-T
• MyVariant Identifiers: chr14:g.88448549C>T (hg19) ; chr14:g.87982205C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982205C>T , CM000676.2:g.87982205C>T	GRCh38
NC_000014.8:g.88448549C>T , CM000676.1:g.88448549C>T	GRCh37
NC_000014.7:g.87518302C>T	NCBI36
NG_011853.2:g.16359G>A
NG_011853.3:g.16359G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.621G>A MANE Select	ENSP00000261304.2:p.Lys207=
ENST00000261304.6:c.621G>A	ENSP00000261304.2:p.Lys207=
ENST00000393568.8:c.552G>A	ENSP00000377198.4:p.Lys184=
ENST00000393569.6:c.543G>A	ENSP00000377199.2:p.Lys181=
ENST00000474294.6:n.611G>A
ENST00000544807.6:c.453G>A	ENSP00000437513.2:p.Lys151=
ENST00000554372.5:c.*370G>A	ENSP00000451884.1:n.*370G>A
ENST00000554916.5:n.500G>A
ENST00000556261.5:n.322G>A
ENST00000557316.5:c.621G>A	ENSP00000452314.1:p.Lys207=
ENST00000622264.4:c.611G>A
NM_000153.3:c.621G>A	NP_000144.2:p.Lys207=
NM_001201401.1:c.552G>A	NP_001188330.1:p.Lys184=
NM_001201402.1:c.543G>A	NP_001188331.1:p.Lys181=
XM_011536618.1:c.453G>A	XP_011534920.1:p.Lys151=
XM_011536618.2:c.453G>A	XP_011534920.1:p.Lys151=
NM_000153.4:c.621G>A MANE Select	NP_000144.2:p.Lys207=
NM_001201401.2:c.552G>A	NP_001188330.1:p.Lys184=
NM_001201402.2:c.543G>A	NP_001188331.1:p.Lys181=