Canonical Allele Identifier: CA7807705

Gene: GNPTG

Linked Data

• dbSNP Id: rs769233183
• ExAC: 16:1412236 G / T
• gnomAD v2: 16-1412236-G-T
• gnomAD v4: 16-1362235-G-T
• MyVariant Identifiers: chr16:g.1412236G>T (hg19) ; chr16:g.1362235G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362235G>T , CM000678.2:g.1362235G>T	GRCh38
NC_000016.9:g.1412236G>T , CM000678.1:g.1412236G>T	GRCh37
NC_000016.8:g.1352237G>T	NCBI36
NG_016985.1:g.15337G>T
NG_033129.1:g.57470C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.540G>T
ENST00000529110.2:c.525G>T	ENSP00000435349.2:p.Arg175=
ENST00000529957.6:n.499G>T
ENST00000683366.1:c.*173G>T	ENSP00000507283.1:n.*173G>T
ENST00000683887.1:c.489G>T	ENSP00000506886.1:p.Arg163=
ENST00000684100.1:n.435G>T
ENST00000684126.1:n.499G>T
ENST00000684688.1:n.1066G>T
ENST00000204679.9:c.441G>T MANE Select	ENSP00000204679.4:p.Arg147=
ENST00000204679.8:c.441G>T	ENSP00000204679.4:p.Arg147=
ENST00000527076.1:n.1457G>T
ENST00000527168.5:n.477G>T
ENST00000529110.1:c.508G>T
ENST00000529957.5:n.540G>T
NM_032520.4:c.441G>T	NP_115909.1:p.Arg147=
XM_017023782.1:c.489G>T	XP_016879271.1:p.Arg163=
XM_017023783.1:c.81G>T	XP_016879272.1:p.Arg27=
NM_032520.5:c.441G>T MANE Select	NP_115909.1:p.Arg147=