Canonical Allele Identifier: CA343362
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 39043
ClinVar RCV Id: RCV000032308
dbSNP Id: rs281864985
MyVariant Identifiers: chr12:g.102158696C>A (hg19) chr12:g.101764918C>A (hg38)
PubMed: PMID:19659762 PMID:20301728
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101764918C>A , CM000674.2:g.101764918C>A GRCh38
NC_000012.11:g.102158696C>A , CM000674.1:g.102158696C>A GRCh37
NC_000012.10:g.100682827C>A NCBI36
NG_021243.1:g.70950G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.1999G>T MANE Select ENSP00000299314.7:p.Glu667Ter
ENST00000299314.11:c.1999G>T ENSP00000299314.7:p.Glu667Ter
NM_024312.4:c.1999G>T NP_077288.2:p.Glu667Ter
XM_006719593.2:c.1999G>T XP_006719656.1:p.Glu667Ter
XM_011538731.1:c.1918G>T XP_011537033.1:p.Glu640Ter
XM_006719593.3:c.1999G>T XP_006719656.1:p.Glu667Ter
XM_011538731.2:c.1918G>T XP_011537033.1:p.Glu640Ter
XM_017019961.1:c.1783G>T XP_016875450.1:p.Glu595Ter
XM_017019962.2:c.772G>T XP_016875451.1:p.Glu258Ter
NM_024312.5:c.1999G>T MANE Select NP_077288.2:p.Glu667Ter
Search 100 bp 5'
Search 100 bp 3'