Canonical Allele Identifier: CA394187851

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412270T>C (hg19) ; chr16:g.1362269T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362269T>C , CM000678.2:g.1362269T>C	GRCh38
NC_000016.9:g.1412270T>C , CM000678.1:g.1412270T>C	GRCh37
NC_000016.8:g.1352271T>C	NCBI36
NG_016985.1:g.15371T>C
NG_033129.1:g.57436A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.574T>C
ENST00000529110.2:c.559T>C	ENSP00000435349.2:p.Tyr187His
ENST00000529957.6:n.533T>C
ENST00000683366.1:c.*207T>C	ENSP00000507283.1:n.*207T>C
ENST00000683887.1:c.523T>C	ENSP00000506886.1:p.Tyr175His
ENST00000684100.1:n.469T>C
ENST00000684126.1:n.533T>C
ENST00000684688.1:n.1100T>C
ENST00000204679.9:c.475T>C MANE Select	ENSP00000204679.4:p.Tyr159His
ENST00000204679.8:c.475T>C	ENSP00000204679.4:p.Tyr159His
ENST00000527076.1:n.1491T>C
ENST00000527168.5:n.511T>C
ENST00000529110.1:c.542T>C
ENST00000529957.5:n.574T>C
NM_032520.4:c.475T>C	NP_115909.1:p.Tyr159His
XM_017023782.1:c.523T>C	XP_016879271.1:p.Tyr175His
XM_017023783.1:c.115T>C	XP_016879272.1:p.Tyr39His
NM_032520.5:c.475T>C MANE Select	NP_115909.1:p.Tyr159His