Canonical Allele Identifier: CA7297179

Gene: GALC

Linked Data

• ClinVar Variation Id: 1570660
• ClinVar RCV Id: RCV002215540 ; RCV003491031
• dbSNP Id: rs753217734
• ExAC: 14:88431855 C / A
• gnomAD v2: 14-88431855-C-A
• gnomAD v3: 14-87965511-C-A
• gnomAD v4: 14-87965511-C-A
• MyVariant Identifiers: chr14:g.88431855C>A (hg19) ; chr14:g.87965511C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965511C>A , CM000676.2:g.87965511C>A	GRCh38
NC_000014.8:g.88431855C>A , CM000676.1:g.88431855C>A	GRCh37
NC_000014.7:g.87501608C>A	NCBI36
NG_011853.2:g.33053G>T
NG_011853.3:g.33053G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1027G>T MANE Select	ENSP00000261304.2:p.Val343Leu
ENST00000261304.6:c.1027G>T	ENSP00000261304.2:p.Val343Leu
ENST00000393568.8:c.958G>T	ENSP00000377198.4:p.Val320Leu
ENST00000393569.6:c.949G>T	ENSP00000377199.2:p.Val317Leu
ENST00000474294.6:n.1017G>T
ENST00000544807.6:c.859G>T	ENSP00000437513.2:p.Val287Leu
ENST00000555000.5:c.394G>T	ENSP00000450472.1:p.Val132Leu
ENST00000557316.5:c.*425G>T	ENSP00000452314.1:n.*425G>T
ENST00000557520.1:n.113G>T
ENST00000622264.4:c.1017G>T
NM_000153.3:c.1027G>T	NP_000144.2:p.Val343Leu
NM_001201401.1:c.958G>T	NP_001188330.1:p.Val320Leu
NM_001201402.1:c.949G>T	NP_001188331.1:p.Val317Leu
XM_011536618.1:c.859G>T	XP_011534920.1:p.Val287Leu
XM_011536618.2:c.859G>T	XP_011534920.1:p.Val287Leu
NM_000153.4:c.1027G>T MANE Select	NP_000144.2:p.Val343Leu
NM_001201401.2:c.958G>T	NP_001188330.1:p.Val320Leu
NM_001201402.2:c.949G>T	NP_001188331.1:p.Val317Leu