Canonical Allele Identifier: CA16609432

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 397559
• ClinVar RCV Id: RCV001420190 ; RCV000449512
• dbSNP Id: rs1060499680
• gnomAD v4: 12-101768036-C-A
• MyVariant Identifiers: chr12:g.102161814C>A (hg19) ; chr12:g.101768036C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768036C>A , CM000674.2:g.101768036C>A	GRCh38
NC_000012.11:g.102161814C>A , CM000674.1:g.102161814C>A	GRCh37
NC_000012.10:g.100685945C>A	NCBI36
NG_021243.1:g.67832G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1408+1G>T MANE Select	ENSP00000299314.7:n.1408+1G>T
ENST00000299314.11:c.1408+1G>T	ENSP00000299314.7:n.1408+1G>T
ENST00000549940.5:c.1409G>T	ENSP00000449150.1:p.Gly470Val
ENST00000552009.1:n.67+1G>T
NM_024312.4:c.1408+1G>T	NP_077288.2:n.1408+1G>T
XM_006719593.2:c.1408+1G>T	XP_006719656.1:n.1408+1G>T
XM_011538731.1:c.1327+1G>T	XP_011537033.1:n.1327+1G>T
XM_006719593.3:c.1408+1G>T	XP_006719656.1:n.1408+1G>T
XM_011538731.2:c.1327+1G>T	XP_011537033.1:n.1327+1G>T
XM_017019961.1:c.1192+1G>T	XP_016875450.1:n.1192+1G>T
XM_017019962.2:c.181+1G>T	XP_016875451.1:n.181+1G>T
NM_024312.5:c.1408+1G>T MANE Select	NP_077288.2:n.1408+1G>T