Canonical Allele Identifier: CA7807853

Gene: GNPTG

Linked Data

• dbSNP Id: rs777795921
• ExAC: 16:1412612 G / A
• gnomAD v2: 16-1412612-G-A
• gnomAD v4: 16-1362611-G-A
• MyVariant Identifiers: chr16:g.1412612G>A (hg19) ; chr16:g.1362611G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362611G>A , CM000678.2:g.1362611G>A	GRCh38
NC_000016.9:g.1412612G>A , CM000678.1:g.1412612G>A	GRCh37
NC_000016.8:g.1352613G>A	NCBI36
NG_016985.1:g.15713G>A
NG_033129.1:g.57094C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.709G>A
ENST00000529110.2:c.694G>A	ENSP00000435349.2:p.Gly232Ser
ENST00000529957.6:n.668G>A
ENST00000683366.1:c.*342G>A	ENSP00000507283.1:n.*342G>A
ENST00000683887.1:c.658G>A	ENSP00000506886.1:p.Gly220Ser
ENST00000684100.1:n.604G>A
ENST00000684126.1:n.744G>A
ENST00000684688.1:n.1235G>A
ENST00000204679.9:c.610G>A MANE Select	ENSP00000204679.4:p.Gly204Ser
ENST00000204679.8:c.610G>A	ENSP00000204679.4:p.Gly204Ser
ENST00000527076.1:n.1833G>A
ENST00000527168.5:n.777G>A
ENST00000529957.5:n.709G>A
NM_032520.4:c.610G>A	NP_115909.1:p.Gly204Ser
XM_017023782.1:c.658G>A	XP_016879271.1:p.Gly220Ser
XM_017023783.1:c.250G>A	XP_016879272.1:p.Gly84Ser
NM_032520.5:c.610G>A MANE Select	NP_115909.1:p.Gly204Ser