Canonical Allele Identifier: CA7807854

Gene: GNPTG

Linked Data

• dbSNP Id: rs751373599
• ExAC: 16:1412614 C / T
• gnomAD v2: 16-1412614-C-T
• MyVariant Identifiers: chr16:g.1412614C>T (hg19) ; chr16:g.1362613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362613C>T , CM000678.2:g.1362613C>T	GRCh38
NC_000016.9:g.1412614C>T , CM000678.1:g.1412614C>T	GRCh37
NC_000016.8:g.1352615C>T	NCBI36
NG_016985.1:g.15715C>T
NG_033129.1:g.57092G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.711C>T
ENST00000529110.2:c.696C>T	ENSP00000435349.2:p.Gly232=
ENST00000529957.6:n.670C>T
ENST00000683366.1:c.*344C>T	ENSP00000507283.1:n.*344C>T
ENST00000683887.1:c.660C>T	ENSP00000506886.1:p.Gly220=
ENST00000684100.1:n.606C>T
ENST00000684126.1:n.746C>T
ENST00000684688.1:n.1237C>T
ENST00000204679.9:c.612C>T MANE Select	ENSP00000204679.4:p.Gly204=
ENST00000204679.8:c.612C>T	ENSP00000204679.4:p.Gly204=
ENST00000527076.1:n.1835C>T
ENST00000527168.5:n.779C>T
ENST00000529957.5:n.711C>T
NM_032520.4:c.612C>T	NP_115909.1:p.Gly204=
XM_017023782.1:c.660C>T	XP_016879271.1:p.Gly220=
XM_017023783.1:c.252C>T	XP_016879272.1:p.Gly84=
NM_032520.5:c.612C>T MANE Select	NP_115909.1:p.Gly204=