Canonical Allele Identifier: CA394187814

Gene: GNPTG

Linked Data

• dbSNP Id: rs1567184270
• MyVariant Identifiers: chr16:g.1412261A>G (hg19) ; chr16:g.1362260A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362260A>G , CM000678.2:g.1362260A>G	GRCh38
NC_000016.9:g.1412261A>G , CM000678.1:g.1412261A>G	GRCh37
NC_000016.8:g.1352262A>G	NCBI36
NG_016985.1:g.15362A>G
NG_033129.1:g.57445T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.565A>G
ENST00000529110.2:c.550A>G	ENSP00000435349.2:p.Thr184Ala
ENST00000529957.6:n.524A>G
ENST00000683366.1:c.*198A>G	ENSP00000507283.1:n.*198A>G
ENST00000683887.1:c.514A>G	ENSP00000506886.1:p.Thr172Ala
ENST00000684100.1:n.460A>G
ENST00000684126.1:n.524A>G
ENST00000684688.1:n.1091A>G
ENST00000204679.9:c.466A>G MANE Select	ENSP00000204679.4:p.Thr156Ala
ENST00000204679.8:c.466A>G	ENSP00000204679.4:p.Thr156Ala
ENST00000527076.1:n.1482A>G
ENST00000527168.5:n.502A>G
ENST00000529110.1:c.533A>G
ENST00000529957.5:n.565A>G
NM_032520.4:c.466A>G	NP_115909.1:p.Thr156Ala
XM_017023782.1:c.514A>G	XP_016879271.1:p.Thr172Ala
XM_017023783.1:c.106A>G	XP_016879272.1:p.Thr36Ala
NM_032520.5:c.466A>G MANE Select	NP_115909.1:p.Thr156Ala