Canonical Allele Identifier: CA394188671

Gene: GNPTG

Linked Data

• dbSNP Id: rs1567185330
• gnomAD v2: 16-1412831-T-A
• gnomAD v4: 16-1362830-T-A
• MyVariant Identifiers: chr16:g.1412831T>A (hg19) ; chr16:g.1412831_1412835delinsAAAAG (hg19) ; chr16:g.1362830T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362830T>A , CM000678.2:g.1362830T>A	GRCh38
NC_000016.9:g.1412831T>A , CM000678.1:g.1412831T>A	GRCh37
NC_000016.8:g.1352832T>A	NCBI36
NG_016985.1:g.15932T>A
NG_033129.1:g.56875A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.846T>A
ENST00000529110.2:c.831T>A	ENSP00000435349.2:p.His277Gln
ENST00000529957.6:n.805T>A
ENST00000683366.1:c.*479T>A	ENSP00000507283.1:n.*479T>A
ENST00000683887.1:c.795T>A	ENSP00000506886.1:p.His265Gln
ENST00000684100.1:n.741T>A
ENST00000684126.1:n.881T>A
ENST00000684688.1:n.1372T>A
ENST00000204679.9:c.747T>A MANE Select	ENSP00000204679.4:p.His249Gln
ENST00000204679.8:c.747T>A	ENSP00000204679.4:p.His249Gln
ENST00000527076.1:n.1970T>A
ENST00000527168.5:n.914T>A
ENST00000529957.5:n.846T>A
NM_032520.4:c.747T>A	NP_115909.1:p.His249Gln
XM_017023782.1:c.795T>A	XP_016879271.1:p.His265Gln
XM_017023783.1:c.387T>A	XP_016879272.1:p.His129Gln
NM_032520.5:c.747T>A MANE Select	NP_115909.1:p.His249Gln