Canonical Allele Identifier: CA7807702

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2987462
• ClinVar RCV Id: RCV003849101
• dbSNP Id: rs530486639
• ExAC: 16:1412218 G / C
• gnomAD v2: 16-1412218-G-C
• gnomAD v3: 16-1362217-G-C
• gnomAD v4: 16-1362217-G-C
• MyVariant Identifiers: chr16:g.1412218G>C (hg19) ; chr16:g.1362217G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362217G>C , CM000678.2:g.1362217G>C	GRCh38
NC_000016.9:g.1412218G>C , CM000678.1:g.1412218G>C	GRCh37
NC_000016.8:g.1352219G>C	NCBI36
NG_016985.1:g.15319G>C
NG_033129.1:g.57488C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.522G>C
ENST00000529110.2:c.507G>C	ENSP00000435349.2:p.Ala169=
ENST00000529957.6:n.481G>C
ENST00000683366.1:c.*155G>C	ENSP00000507283.1:n.*155G>C
ENST00000683887.1:c.471G>C	ENSP00000506886.1:p.Ala157=
ENST00000684100.1:n.417G>C
ENST00000684126.1:n.481G>C
ENST00000684688.1:n.1048G>C
ENST00000204679.9:c.423G>C MANE Select	ENSP00000204679.4:p.Ala141=
ENST00000204679.8:c.423G>C	ENSP00000204679.4:p.Ala141=
ENST00000527076.1:n.1439G>C
ENST00000527168.5:n.459G>C
ENST00000529110.1:c.490G>C
ENST00000529957.5:n.522G>C
NM_032520.4:c.423G>C	NP_115909.1:p.Ala141=
XM_017023782.1:c.471G>C	XP_016879271.1:p.Ala157=
XM_017023783.1:c.63G>C	XP_016879272.1:p.Ala21=
NM_032520.5:c.423G>C MANE Select	NP_115909.1:p.Ala141=