Canonical Allele Identifier: CA394187941

Gene: GNPTG

Linked Data

• dbSNP Id: rs998330228
• gnomAD v4: 16-1362308-C-G
• MyVariant Identifiers: chr16:g.1412309C>G (hg19) ; chr16:g.1362308C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362308C>G , CM000678.2:g.1362308C>G	GRCh38
NC_000016.9:g.1412309C>G , CM000678.1:g.1412309C>G	GRCh37
NC_000016.8:g.1352310C>G	NCBI36
NG_016985.1:g.15410C>G
NG_033129.1:g.57397G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.613C>G
ENST00000529110.2:c.598C>G	ENSP00000435349.2:p.His200Asp
ENST00000529957.6:n.572C>G
ENST00000683366.1:c.*246C>G	ENSP00000507283.1:n.*246C>G
ENST00000683887.1:c.562C>G	ENSP00000506886.1:p.His188Asp
ENST00000684100.1:n.508C>G
ENST00000684126.1:n.572C>G
ENST00000684688.1:n.1139C>G
ENST00000204679.9:c.514C>G MANE Select	ENSP00000204679.4:p.His172Asp
ENST00000204679.8:c.514C>G	ENSP00000204679.4:p.His172Asp
ENST00000527076.1:n.1530C>G
ENST00000527168.5:n.550C>G
ENST00000529957.5:n.613C>G
NM_032520.4:c.514C>G	NP_115909.1:p.His172Asp
XM_017023782.1:c.562C>G	XP_016879271.1:p.His188Asp
XM_017023783.1:c.154C>G	XP_016879272.1:p.His52Asp
NM_032520.5:c.514C>G MANE Select	NP_115909.1:p.His172Asp