Canonical Allele Identifier: CA7807821

Gene: GNPTG

Linked Data

• dbSNP Id: rs764889321
• ExAC: 16:1412527 A / T
• gnomAD v2: 16-1412527-A-T
• gnomAD v4: 16-1362526-A-T
• MyVariant Identifiers: chr16:g.1412527A>T (hg19) ; chr16:g.1362526A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362526A>T , CM000678.2:g.1362526A>T	GRCh38
NC_000016.9:g.1412527A>T , CM000678.1:g.1412527A>T	GRCh37
NC_000016.8:g.1352528A>T	NCBI36
NG_016985.1:g.15628A>T
NG_033129.1:g.57179T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.700A>T
ENST00000529110.2:c.685A>T	ENSP00000435349.2:p.Thr229Ser
ENST00000529957.6:n.659A>T
ENST00000683366.1:c.*333A>T	ENSP00000507283.1:n.*333A>T
ENST00000683887.1:c.649A>T	ENSP00000506886.1:p.Thr217Ser
ENST00000684100.1:n.595A>T
ENST00000684126.1:n.659A>T
ENST00000684688.1:n.1226A>T
ENST00000204679.9:c.601A>T MANE Select	ENSP00000204679.4:p.Thr201Ser
ENST00000204679.8:c.601A>T	ENSP00000204679.4:p.Thr201Ser
ENST00000527076.1:n.1748A>T
ENST00000527168.5:n.768A>T
ENST00000529957.5:n.700A>T
NM_032520.4:c.601A>T	NP_115909.1:p.Thr201Ser
XM_017023782.1:c.649A>T	XP_016879271.1:p.Thr217Ser
XM_017023783.1:c.241A>T	XP_016879272.1:p.Thr81Ser
NM_032520.5:c.601A>T MANE Select	NP_115909.1:p.Thr201Ser