Canonical Allele Identifier: CA394188779

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034944793
• gnomAD v3: 16-1362883-G-A
• gnomAD v4: 16-1362883-G-A
• MyVariant Identifiers: chr16:g.1412884G>A (hg19) ; chr16:g.1362883G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362883G>A , CM000678.2:g.1362883G>A	GRCh38
NC_000016.9:g.1412884G>A , CM000678.1:g.1412884G>A	GRCh37
NC_000016.8:g.1352885G>A	NCBI36
NG_016985.1:g.15985G>A
NG_033129.1:g.56822C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.899G>A
ENST00000529110.2:c.884G>A	ENSP00000435349.2:p.Gly295Asp
ENST00000529957.6:n.858G>A
ENST00000683366.1:c.*532G>A	ENSP00000507283.1:n.*532G>A
ENST00000683887.1:c.848G>A	ENSP00000506886.1:p.Gly283Asp
ENST00000684100.1:n.794G>A
ENST00000684126.1:n.934G>A
ENST00000684688.1:n.1425G>A
ENST00000204679.9:c.800G>A MANE Select	ENSP00000204679.4:p.Gly267Asp
ENST00000204679.8:c.800G>A	ENSP00000204679.4:p.Gly267Asp
ENST00000527076.1:n.2023G>A
ENST00000527168.5:n.967G>A
ENST00000529957.5:n.899G>A
NM_032520.4:c.800G>A	NP_115909.1:p.Gly267Asp
XM_017023782.1:c.848G>A	XP_016879271.1:p.Gly283Asp
XM_017023783.1:c.440G>A	XP_016879272.1:p.Gly147Asp
NM_032520.5:c.800G>A MANE Select	NP_115909.1:p.Gly267Asp