Canonical Allele Identifier: CA394186917

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361912-C-T
• MyVariant Identifiers: chr16:g.1411913C>T (hg19) ; chr16:g.1361912C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361912C>T , CM000678.2:g.1361912C>T	GRCh38
NC_000016.9:g.1411913C>T , CM000678.1:g.1411913C>T	GRCh37
NC_000016.8:g.1351914C>T	NCBI36
NG_016985.1:g.15014C>T
NG_033129.1:g.57793G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.373C>T
ENST00000529110.2:c.358C>T	ENSP00000435349.2:p.His120Tyr
ENST00000529957.6:n.332C>T
ENST00000683366.1:c.*6C>T	ENSP00000507283.1:n.*6C>T
ENST00000683887.1:c.322C>T	ENSP00000506886.1:p.His108Tyr
ENST00000684100.1:n.268C>T
ENST00000684126.1:n.332C>T
ENST00000684688.1:n.899C>T
ENST00000204679.9:c.274C>T MANE Select	ENSP00000204679.4:p.His92Tyr
ENST00000204679.8:c.274C>T	ENSP00000204679.4:p.His92Tyr
ENST00000526820.5:c.*176C>T	ENSP00000434413.1:n.*176C>T
ENST00000527076.1:n.1290C>T
ENST00000527168.5:n.310C>T
ENST00000529110.1:c.341C>T
ENST00000529957.5:n.373C>T
NM_032520.4:c.274C>T	NP_115909.1:p.His92Tyr
XM_017023782.1:c.322C>T	XP_016879271.1:p.His108Tyr
XM_017023783.1:c.-87C>T	XP_016879272.1:n.-87C>T
NM_032520.5:c.274C>T MANE Select	NP_115909.1:p.His92Tyr