Canonical Allele Identifier: CA394188791

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 645813
• ClinVar RCV Id: RCV000799973 ; RCV001825578
• dbSNP Id: rs1596616485
• gnomAD v4: 16-1362889-C-A
• MyVariant Identifiers: chr16:g.1412890C>A (hg19) ; chr16:g.1362889C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362889C>A , CM000678.2:g.1362889C>A	GRCh38
NC_000016.9:g.1412890C>A , CM000678.1:g.1412890C>A	GRCh37
NC_000016.8:g.1352891C>A	NCBI36
NG_016985.1:g.15991C>A
NG_033129.1:g.56816G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.905C>A
ENST00000529110.2:c.890C>A	ENSP00000435349.2:p.Pro297His
ENST00000529957.6:n.864C>A
ENST00000683366.1:c.*538C>A	ENSP00000507283.1:n.*538C>A
ENST00000683887.1:c.854C>A	ENSP00000506886.1:p.Pro285His
ENST00000684100.1:n.800C>A
ENST00000684126.1:n.940C>A
ENST00000684688.1:n.1431C>A
ENST00000204679.9:c.806C>A MANE Select	ENSP00000204679.4:p.Pro269His
ENST00000204679.8:c.806C>A	ENSP00000204679.4:p.Pro269His
ENST00000527076.1:n.2029C>A
ENST00000527168.5:n.973C>A
ENST00000529957.5:n.905C>A
NM_032520.4:c.806C>A	NP_115909.1:p.Pro269His
XM_017023782.1:c.854C>A	XP_016879271.1:p.Pro285His
XM_017023783.1:c.446C>A	XP_016879272.1:p.Pro149His
NM_032520.5:c.806C>A MANE Select	NP_115909.1:p.Pro269His