Canonical Allele Identifier: CA7807744

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 716778
• ClinVar RCV Id: RCV000889480 ; RCV001119620
• dbSNP Id: rs202240106
• ExAC: 16:1412305 C / T
• gnomAD v2: 16-1412305-C-T
• gnomAD v3: 16-1362304-C-T
• gnomAD v4: 16-1362304-C-T
• MyVariant Identifiers: chr16:g.1412305C>T (hg19) ; chr16:g.1362304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362304C>T , CM000678.2:g.1362304C>T	GRCh38
NC_000016.9:g.1412305C>T , CM000678.1:g.1412305C>T	GRCh37
NC_000016.8:g.1352306C>T	NCBI36
NG_016985.1:g.15406C>T
NG_033129.1:g.57401G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.609C>T
ENST00000529110.2:c.594C>T	ENSP00000435349.2:p.His198=
ENST00000529957.6:n.568C>T
ENST00000683366.1:c.*242C>T	ENSP00000507283.1:n.*242C>T
ENST00000683887.1:c.558C>T	ENSP00000506886.1:p.His186=
ENST00000684100.1:n.504C>T
ENST00000684126.1:n.568C>T
ENST00000684688.1:n.1135C>T
ENST00000204679.9:c.510C>T MANE Select	ENSP00000204679.4:p.His170=
ENST00000204679.8:c.510C>T	ENSP00000204679.4:p.His170=
ENST00000527076.1:n.1526C>T
ENST00000527168.5:n.546C>T
ENST00000529957.5:n.609C>T
NM_032520.4:c.510C>T	NP_115909.1:p.His170=
XM_017023782.1:c.558C>T	XP_016879271.1:p.His186=
XM_017023783.1:c.150C>T	XP_016879272.1:p.His50=
NM_032520.5:c.510C>T MANE Select	NP_115909.1:p.His170=