Canonical Allele Identifier: CA343412
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 39085
ClinVar RCV Id: RCV000032352 RCV001852651
dbSNP Id: rs281864962
MyVariant Identifiers: chr12:g.102174065C>T (hg19) chr12:g.101780287C>T (hg38)
PubMed: PMID:19617216 PMID:20301728
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101780287C>T , CM000674.2:g.101780287C>T GRCh38
NC_000012.11:g.102174065C>T , CM000674.1:g.102174065C>T GRCh37
NC_000012.10:g.100698196C>T NCBI36
NG_021243.1:g.55581G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.637-1G>A MANE Select ENSP00000299314.7:n.637-1G>A
ENST00000299314.11:c.637-1G>A ENSP00000299314.7:n.637-1G>A
ENST00000549940.5:c.637-1G>A ENSP00000449150.1:n.637-1G>A
ENST00000552681.1:c.271-1G>A ENSP00000449217.1:n.271-1G>A
NM_024312.4:c.637-1G>A NP_077288.2:n.637-1G>A
XM_006719593.2:c.637-1G>A XP_006719656.1:n.637-1G>A
XM_011538731.1:c.556-1G>A XP_011537033.1:n.556-1G>A
XM_006719593.3:c.637-1G>A XP_006719656.1:n.637-1G>A
XM_011538731.2:c.556-1G>A XP_011537033.1:n.556-1G>A
XM_017019961.1:c.421-1G>A XP_016875450.1:n.421-1G>A
XM_017019962.2:c.-714-1G>A XP_016875451.1:n.-714-1G>A
NM_024312.5:c.637-1G>A MANE Select NP_077288.2:n.637-1G>A
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