Canonical Allele Identifier: CA394186913

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411912G>T (hg19) ; chr16:g.1361911G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361911G>T , CM000678.2:g.1361911G>T	GRCh38
NC_000016.9:g.1411912G>T , CM000678.1:g.1411912G>T	GRCh37
NC_000016.8:g.1351913G>T	NCBI36
NG_016985.1:g.15013G>T
NG_033129.1:g.57794C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.372G>T
ENST00000529110.2:c.357G>T	ENSP00000435349.2:p.Gln119His
ENST00000529957.6:n.331G>T
ENST00000683366.1:c.*5G>T	ENSP00000507283.1:n.*5G>T
ENST00000683887.1:c.321G>T	ENSP00000506886.1:p.Gln107His
ENST00000684100.1:n.267G>T
ENST00000684126.1:n.331G>T
ENST00000684688.1:n.898G>T
ENST00000204679.9:c.273G>T MANE Select	ENSP00000204679.4:p.Gln91His
ENST00000204679.8:c.273G>T	ENSP00000204679.4:p.Gln91His
ENST00000526820.5:c.*175G>T	ENSP00000434413.1:n.*175G>T
ENST00000527076.1:n.1289G>T
ENST00000527168.5:n.309G>T
ENST00000529110.1:c.340G>T
ENST00000529957.5:n.372G>T
NM_032520.4:c.273G>T	NP_115909.1:p.Gln91His
XM_017023782.1:c.321G>T	XP_016879271.1:p.Gln107His
XM_017023783.1:c.-88G>T	XP_016879272.1:n.-88G>T
NM_032520.5:c.273G>T MANE Select	NP_115909.1:p.Gln91His