Canonical Allele Identifier: CA394188796

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412892T>C (hg19) ; chr16:g.1362891T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362891T>C , CM000678.2:g.1362891T>C	GRCh38
NC_000016.9:g.1412892T>C , CM000678.1:g.1412892T>C	GRCh37
NC_000016.8:g.1352893T>C	NCBI36
NG_016985.1:g.15993T>C
NG_033129.1:g.56814A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.907T>C
ENST00000529110.2:c.892T>C	ENSP00000435349.2:p.Tyr298His
ENST00000529957.6:n.866T>C
ENST00000683366.1:c.*540T>C	ENSP00000507283.1:n.*540T>C
ENST00000683887.1:c.856T>C	ENSP00000506886.1:p.Tyr286His
ENST00000684100.1:n.802T>C
ENST00000684126.1:n.942T>C
ENST00000684688.1:n.1433T>C
ENST00000204679.9:c.808T>C MANE Select	ENSP00000204679.4:p.Tyr270His
ENST00000204679.8:c.808T>C	ENSP00000204679.4:p.Tyr270His
ENST00000527076.1:n.2031T>C
ENST00000527168.5:n.975T>C
ENST00000529957.5:n.907T>C
NM_032520.4:c.808T>C	NP_115909.1:p.Tyr270His
XM_017023782.1:c.856T>C	XP_016879271.1:p.Tyr286His
XM_017023783.1:c.448T>C	XP_016879272.1:p.Tyr150His
NM_032520.5:c.808T>C MANE Select	NP_115909.1:p.Tyr270His