Canonical Allele Identifier: CA386301808
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 2621361
ClinVar RCV Id: RCV003385235
dbSNP Id: rs1342010486
gnomAD v2: 12-102161839-C-T
gnomAD v3: 12-101768061-C-T
gnomAD v4: 12-101768061-C-T
COSMIC: COSM934050 COSM4202128
MyVariant Identifiers: chr12:g.102161839C>T (hg19) chr12:g.101768061C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101768061C>T , CM000674.2:g.101768061C>T GRCh38
NC_000012.11:g.102161839C>T , CM000674.1:g.102161839C>T GRCh37
NC_000012.10:g.100685970C>T NCBI36
NG_021243.1:g.67807G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.1384G>A MANE Select ENSP00000299314.7:p.Asp462Asn
ENST00000299314.11:c.1384G>A ENSP00000299314.7:p.Asp462Asn
ENST00000549940.5:c.1384G>A ENSP00000449150.1:p.Asp462Asn
ENST00000552009.1:n.43G>A
NM_024312.4:c.1384G>A NP_077288.2:p.Asp462Asn
XM_006719593.2:c.1384G>A XP_006719656.1:p.Asp462Asn
XM_011538731.1:c.1303G>A XP_011537033.1:p.Asp435Asn
XM_006719593.3:c.1384G>A XP_006719656.1:p.Asp462Asn
XM_011538731.2:c.1303G>A XP_011537033.1:p.Asp435Asn
XM_017019961.1:c.1168G>A XP_016875450.1:p.Asp390Asn
XM_017019962.2:c.157G>A XP_016875451.1:p.Asp53Asn
NM_024312.5:c.1384G>A MANE Select NP_077288.2:p.Asp462Asn
Search 100 bp 5'
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