Canonical Allele Identifier: CA343079
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 38427
ClinVar RCV Id: RCV000031984
dbSNP Id: rs281865037
MyVariant Identifiers: chr12:g.102147318C>T (hg19) chr12:g.101753540C>T (hg38)
PubMed: PMID:16465621 PMID:20301730
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753540C>T , CM000674.2:g.101753540C>T GRCh38
NC_000012.11:g.102147318C>T , CM000674.1:g.102147318C>T GRCh37
NC_000012.10:g.100671449C>T NCBI36
NG_021243.1:g.82328G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3435-1G>A MANE Select ENSP00000299314.7:n.3435-1G>A
ENST00000299314.11:c.3435-1G>A ENSP00000299314.7:n.3435-1G>A
ENST00000549738.5:c.333-1G>A ENSP00000450161.1:n.333-1G>A
NM_024312.4:c.3435-1G>A NP_077288.2:n.3435-1G>A
XM_011538731.1:c.3354-1G>A XP_011537033.1:n.3354-1G>A
XM_011538731.2:c.3354-1G>A XP_011537033.1:n.3354-1G>A
XM_017019961.1:c.3219-1G>A XP_016875450.1:n.3219-1G>A
XM_017019962.2:c.2208-1G>A XP_016875451.1:n.2208-1G>A
NM_024312.5:c.3435-1G>A MANE Select NP_077288.2:n.3435-1G>A
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