Canonical Allele Identifier: CA223750
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 39022
ClinVar RCV Id: RCV000032287 RCV000790711 RCV001038168 RCV000983986 RCV004528150
dbSNP Id: rs397507447
ExAC: 12:102163960 G / A
gnomAD v2: 12-102163960-G-A
gnomAD v3: 12-101770182-G-A
gnomAD v4: 12-101770182-G-A
MyVariant Identifiers: chr12:g.102163960G>A (hg19) chr12:g.101770182G>A (hg38)
PubMed: PMID:19617216 PMID:19634183 PMID:20301728 PMID:20886637 PMID:23566849
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101770182G>A , CM000674.2:g.101770182G>A GRCh38
NC_000012.11:g.102163960G>A , CM000674.1:g.102163960G>A GRCh37
NC_000012.10:g.100688091G>A NCBI36
NG_021243.1:g.65686C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.1123C>T MANE Select ENSP00000299314.7:p.Arg375Ter
ENST00000299314.11:c.1123C>T ENSP00000299314.7:p.Arg375Ter
ENST00000549940.5:c.1123C>T ENSP00000449150.1:p.Arg375Ter
NM_024312.4:c.1123C>T NP_077288.2:p.Arg375Ter
XM_006719593.2:c.1123C>T XP_006719656.1:p.Arg375Ter
XM_011538731.1:c.1042C>T XP_011537033.1:p.Arg348Ter
XM_006719593.3:c.1123C>T XP_006719656.1:p.Arg375Ter
XM_011538731.2:c.1042C>T XP_011537033.1:p.Arg348Ter
XM_017019961.1:c.907C>T XP_016875450.1:p.Arg303Ter
XM_017019962.2:c.-105C>T XP_016875451.1:n.-105C>T
NM_024312.5:c.1123C>T MANE Select NP_077288.2:p.Arg375Ter
Search 100 bp 5'
Search 100 bp 3'