Canonical Allele Identifier: CA242454332
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 737279
ClinVar RCV Id: RCV002065843
dbSNP Id: rs780256662
gnomAD v2: 12-102155446-A-G
gnomAD v4: 12-101761668-A-G
MyVariant Identifiers: chr12:g.102155446A>G (hg19) chr12:g.101761668A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101761668A>G , CM000674.2:g.101761668A>G GRCh38
NC_000012.11:g.102155446A>G , CM000674.1:g.102155446A>G GRCh37
NC_000012.10:g.100679577A>G NCBI36
NG_021243.1:g.74200T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.2811T>C MANE Select ENSP00000299314.7:p.Tyr937=
ENST00000299314.11:c.2811T>C ENSP00000299314.7:p.Tyr937=
NM_024312.4:c.2811T>C NP_077288.2:p.Tyr937=
XM_006719593.2:c.2811T>C XP_006719656.1:p.Tyr937=
XM_011538731.1:c.2730T>C XP_011537033.1:p.Tyr910=
XM_006719593.3:c.2811T>C XP_006719656.1:p.Tyr937=
XM_011538731.2:c.2730T>C XP_011537033.1:p.Tyr910=
XM_017019961.1:c.2595T>C XP_016875450.1:p.Tyr865=
XM_017019962.2:c.1584T>C XP_016875451.1:p.Tyr528=
NM_024312.5:c.2811T>C MANE Select NP_077288.2:p.Tyr937=
Search 100 bp 5'
Search 100 bp 3'