Canonical Allele Identifier: CA394186955

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411921G>T (hg19) ; chr16:g.1361920G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361920G>T , CM000678.2:g.1361920G>T	GRCh38
NC_000016.9:g.1411921G>T , CM000678.1:g.1411921G>T	GRCh37
NC_000016.8:g.1351922G>T	NCBI36
NG_016985.1:g.15022G>T
NG_033129.1:g.57785C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.381G>T
ENST00000529110.2:c.366G>T	ENSP00000435349.2:p.Gln122His
ENST00000529957.6:n.340G>T
ENST00000683366.1:c.*14G>T	ENSP00000507283.1:n.*14G>T
ENST00000683887.1:c.330G>T	ENSP00000506886.1:p.Gln110His
ENST00000684100.1:n.276G>T
ENST00000684126.1:n.340G>T
ENST00000684688.1:n.907G>T
ENST00000204679.9:c.282G>T MANE Select	ENSP00000204679.4:p.Gln94His
ENST00000204679.8:c.282G>T	ENSP00000204679.4:p.Gln94His
ENST00000526820.5:c.*184G>T	ENSP00000434413.1:n.*184G>T
ENST00000527076.1:n.1298G>T
ENST00000527168.5:n.318G>T
ENST00000529110.1:c.349G>T
ENST00000529957.5:n.381G>T
NM_032520.4:c.282G>T	NP_115909.1:p.Gln94His
XM_017023782.1:c.330G>T	XP_016879271.1:p.Gln110His
XM_017023783.1:c.-79G>T	XP_016879272.1:n.-79G>T
NM_032520.5:c.282G>T MANE Select	NP_115909.1:p.Gln94His