Canonical Allele Identifier: CA493026602
Gene: GNPTG HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.1412469A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362468A>C , CM000678.2:g.1362468A>C GRCh38
NC_000016.9:g.1412469A>C , CM000678.1:g.1412469A>C GRCh37
NC_000016.8:g.1352470A>C NCBI36
NG_016985.1:g.15570A>C
NG_033129.1:g.57237T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000527168.6:n.642A>C
ENST00000529110.2:c.627A>C ENSP00000435349.2:p.Pro209=
ENST00000529957.6:n.601A>C
ENST00000683366.1:c.*275A>C ENSP00000507283.1:n.*275A>C
ENST00000683887.1:c.591A>C ENSP00000506886.1:p.Pro197=
ENST00000684100.1:n.537A>C
ENST00000684126.1:n.601A>C
ENST00000684688.1:n.1168A>C
ENST00000204679.9:c.543A>C MANE Select ENSP00000204679.4:p.Pro181=
ENST00000204679.8:c.543A>C ENSP00000204679.4:p.Pro181=
ENST00000527076.1:n.1690A>C
ENST00000527168.5:n.710A>C
ENST00000529957.5:n.642A>C
NM_032520.4:c.543A>C NP_115909.1:p.Pro181=
XM_017023782.1:c.591A>C XP_016879271.1:p.Pro197=
XM_017023783.1:c.183A>C XP_016879272.1:p.Pro61=
NM_032520.5:c.543A>C MANE Select NP_115909.1:p.Pro181=