Canonical Allele Identifier: CA7807797

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 765479
• ClinVar RCV Id: RCV000943900
• dbSNP Id: rs760497948
• ExAC: 16:1412463 C / A
• gnomAD v2: 16-1412463-C-A
• gnomAD v3: 16-1362462-C-A
• gnomAD v4: 16-1362462-C-A
• MyVariant Identifiers: chr16:g.1412463C>A (hg19) ; chr16:g.1362462C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362462C>A , CM000678.2:g.1362462C>A	GRCh38
NC_000016.9:g.1412463C>A , CM000678.1:g.1412463C>A	GRCh37
NC_000016.8:g.1352464C>A	NCBI36
NG_016985.1:g.15564C>A
NG_033129.1:g.57243G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.636C>A
ENST00000529110.2:c.621C>A	ENSP00000435349.2:p.Thr207=
ENST00000529957.6:n.595C>A
ENST00000683366.1:c.*269C>A	ENSP00000507283.1:n.*269C>A
ENST00000683887.1:c.585C>A	ENSP00000506886.1:p.Thr195=
ENST00000684100.1:n.531C>A
ENST00000684126.1:n.595C>A
ENST00000684688.1:n.1162C>A
ENST00000204679.9:c.537C>A MANE Select	ENSP00000204679.4:p.Thr179=
ENST00000204679.8:c.537C>A	ENSP00000204679.4:p.Thr179=
ENST00000527076.1:n.1684C>A
ENST00000527168.5:n.704C>A
ENST00000529957.5:n.636C>A
NM_032520.4:c.537C>A	NP_115909.1:p.Thr179=
XM_017023782.1:c.585C>A	XP_016879271.1:p.Thr195=
XM_017023783.1:c.177C>A	XP_016879272.1:p.Thr59=
NM_032520.5:c.537C>A MANE Select	NP_115909.1:p.Thr179=