Canonical Allele Identifier: CA340020
Gene: GNPTG HGNC NCBI

Linked Data

ClinVar Variation Id: 2797
ClinVar RCV Id: RCV000002931 RCV000726758
dbSNP Id: rs137852884
gnomAD v4: 16-1362053-G-A
MyVariant Identifiers: chr16:g.1412054G>A (hg19) chr16:g.1362053G>A (hg38)
PubMed: PMID:19370764 PMID:20301784
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362053G>A , CM000678.2:g.1362053G>A GRCh38
NC_000016.9:g.1412054G>A , CM000678.1:g.1412054G>A GRCh37
NC_000016.8:g.1352055G>A NCBI36
NG_016985.1:g.15155G>A
NG_033129.1:g.57652C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000527168.6:n.432G>A
ENST00000529110.2:c.417G>A ENSP00000435349.2:p.Trp139Ter
ENST00000529957.6:n.391G>A
ENST00000683366.1:c.*65G>A ENSP00000507283.1:n.*65G>A
ENST00000683887.1:c.381G>A ENSP00000506886.1:p.Trp127Ter
ENST00000684100.1:n.327G>A
ENST00000684126.1:n.391G>A
ENST00000684688.1:n.958G>A
ENST00000204679.9:c.333G>A MANE Select ENSP00000204679.4:p.Trp111Ter
ENST00000204679.8:c.333G>A ENSP00000204679.4:p.Trp111Ter
ENST00000526820.5:c.*235G>A ENSP00000434413.1:n.*235G>A
ENST00000527076.1:n.1349G>A
ENST00000527168.5:n.369G>A
ENST00000529110.1:c.400G>A
ENST00000529957.5:n.432G>A
NM_032520.4:c.333G>A NP_115909.1:p.Trp111Ter
XM_017023782.1:c.381G>A XP_016879271.1:p.Trp127Ter
XM_017023783.1:c.-28G>A XP_016879272.1:n.-28G>A
NM_032520.5:c.333G>A MANE Select NP_115909.1:p.Trp111Ter
Search 100 bp 5'
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