Canonical Allele Identifier: CA343418
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 39092
ClinVar RCV Id: RCV000032359
dbSNP Id: rs281864968
MyVariant Identifiers: chr12:g.102164357G>A (hg19) chr12:g.101770579G>A (hg38)
PubMed: PMID:19634183 PMID:20301728
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101770579G>A , CM000674.2:g.101770579G>A GRCh38
NC_000012.11:g.102164357G>A , CM000674.1:g.102164357G>A GRCh37
NC_000012.10:g.100688488G>A NCBI36
NG_021243.1:g.65289C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.940C>T MANE Select ENSP00000299314.7:p.Gln314Ter
ENST00000299314.11:c.940C>T ENSP00000299314.7:p.Gln314Ter
ENST00000549940.5:c.940C>T ENSP00000449150.1:p.Gln314Ter
NM_024312.4:c.940C>T NP_077288.2:p.Gln314Ter
XM_006719593.2:c.940C>T XP_006719656.1:p.Gln314Ter
XM_011538731.1:c.859C>T XP_011537033.1:p.Gln287Ter
XM_006719593.3:c.940C>T XP_006719656.1:p.Gln314Ter
XM_011538731.2:c.859C>T XP_011537033.1:p.Gln287Ter
XM_017019961.1:c.724C>T XP_016875450.1:p.Gln242Ter
XM_017019962.2:c.-288C>T XP_016875451.1:n.-288C>T
NM_024312.5:c.940C>T MANE Select NP_077288.2:p.Gln314Ter
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