Canonical Allele Identifier: CA394188315

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1956793
• ClinVar RCV Id: RCV002705810
• gnomAD v4: 16-1362516-T-A
• MyVariant Identifiers: chr16:g.1412517T>A (hg19) ; chr16:g.1362516T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362516T>A , CM000678.2:g.1362516T>A	GRCh38
NC_000016.9:g.1412517T>A , CM000678.1:g.1412517T>A	GRCh37
NC_000016.8:g.1352518T>A	NCBI36
NG_016985.1:g.15618T>A
NG_033129.1:g.57189A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.690T>A
ENST00000529110.2:c.675T>A	ENSP00000435349.2:p.Asp225Glu
ENST00000529957.6:n.649T>A
ENST00000683366.1:c.*323T>A	ENSP00000507283.1:n.*323T>A
ENST00000683887.1:c.639T>A	ENSP00000506886.1:p.Asp213Glu
ENST00000684100.1:n.585T>A
ENST00000684126.1:n.649T>A
ENST00000684688.1:n.1216T>A
ENST00000204679.9:c.591T>A MANE Select	ENSP00000204679.4:p.Asp197Glu
ENST00000204679.8:c.591T>A	ENSP00000204679.4:p.Asp197Glu
ENST00000527076.1:n.1738T>A
ENST00000527168.5:n.758T>A
ENST00000529957.5:n.690T>A
NM_032520.4:c.591T>A	NP_115909.1:p.Asp197Glu
XM_017023782.1:c.639T>A	XP_016879271.1:p.Asp213Glu
XM_017023783.1:c.231T>A	XP_016879272.1:p.Asp77Glu
NM_032520.5:c.591T>A MANE Select	NP_115909.1:p.Asp197Glu