Canonical Allele Identifier: CA7807814

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1425112
• ClinVar RCV Id: RCV001924278
• dbSNP Id: rs367672512
• ExAC: 16:1412515 G / A
• gnomAD v2: 16-1412515-G-A
• gnomAD v3: 16-1362514-G-A
• gnomAD v4: 16-1362514-G-A
• MyVariant Identifiers: chr16:g.1412515G>A (hg19) ; chr16:g.1362514G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362514G>A , CM000678.2:g.1362514G>A	GRCh38
NC_000016.9:g.1412515G>A , CM000678.1:g.1412515G>A	GRCh37
NC_000016.8:g.1352516G>A	NCBI36
NG_016985.1:g.15616G>A
NG_033129.1:g.57191C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.688G>A
ENST00000529110.2:c.673G>A	ENSP00000435349.2:p.Asp225Asn
ENST00000529957.6:n.647G>A
ENST00000683366.1:c.*321G>A	ENSP00000507283.1:n.*321G>A
ENST00000683887.1:c.637G>A	ENSP00000506886.1:p.Asp213Asn
ENST00000684100.1:n.583G>A
ENST00000684126.1:n.647G>A
ENST00000684688.1:n.1214G>A
ENST00000204679.9:c.589G>A MANE Select	ENSP00000204679.4:p.Asp197Asn
ENST00000204679.8:c.589G>A	ENSP00000204679.4:p.Asp197Asn
ENST00000527076.1:n.1736G>A
ENST00000527168.5:n.756G>A
ENST00000529957.5:n.688G>A
NM_032520.4:c.589G>A	NP_115909.1:p.Asp197Asn
XM_017023782.1:c.637G>A	XP_016879271.1:p.Asp213Asn
XM_017023783.1:c.229G>A	XP_016879272.1:p.Asp77Asn
NM_032520.5:c.589G>A MANE Select	NP_115909.1:p.Asp197Asn