Canonical Allele Identifier: CA6746118

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2166304
• ClinVar RCV Id: RCV003091692
• dbSNP Id: rs141007019
• ExAC: 12:102147186 C / T
• gnomAD v2: 12-102147186-C-T
• gnomAD v3: 12-101753408-C-T
• gnomAD v4: 12-101753408-C-T
• COSMIC: COSM934035
• MyVariant Identifiers: chr12:g.102147186C>T (hg19) ; chr12:g.101753408C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753408C>T , CM000674.2:g.101753408C>T	GRCh38
NC_000012.11:g.102147186C>T , CM000674.1:g.102147186C>T	GRCh37
NC_000012.10:g.100671317C>T	NCBI36
NG_021243.1:g.82460G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3566G>A MANE Select	ENSP00000299314.7:p.Arg1189Gln
ENST00000299314.11:c.3566G>A	ENSP00000299314.7:p.Arg1189Gln
ENST00000549738.5:c.464G>A	ENSP00000450161.1:n.464G>A
NM_024312.4:c.3566G>A	NP_077288.2:p.Arg1189Gln
XM_011538731.1:c.3485G>A	XP_011537033.1:p.Arg1162Gln
XM_011538731.2:c.3485G>A	XP_011537033.1:p.Arg1162Gln
XM_017019961.1:c.3350G>A	XP_016875450.1:p.Arg1117Gln
XM_017019962.2:c.2339G>A	XP_016875451.1:p.Arg780Gln
NM_024312.5:c.3566G>A MANE Select	NP_077288.2:p.Arg1189Gln