Canonical Allele Identifier: CA276656581

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1023868
• ClinVar RCV Id: RCV001323977
• dbSNP Id: rs145313679
• gnomAD v4: 16-1361902-C-A
• MyVariant Identifiers: chr16:g.1411903C>A (hg19) ; chr16:g.1361902C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361902C>A , CM000678.2:g.1361902C>A	GRCh38
NC_000016.9:g.1411903C>A , CM000678.1:g.1411903C>A	GRCh37
NC_000016.8:g.1351904C>A	NCBI36
NG_016985.1:g.15004C>A
NG_033129.1:g.57803G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.363C>A
ENST00000529110.2:c.348C>A	ENSP00000435349.2:p.Asn116Lys
ENST00000529957.6:n.322C>A
ENST00000683366.1:c.209C>A	ENSP00000507283.1:p.Thr70Lys
ENST00000683887.1:c.312C>A	ENSP00000506886.1:p.Asn104Lys
ENST00000684100.1:n.258C>A
ENST00000684126.1:n.322C>A
ENST00000684688.1:n.889C>A
ENST00000204679.9:c.264C>A MANE Select	ENSP00000204679.4:p.Asn88Lys
ENST00000204679.8:c.264C>A	ENSP00000204679.4:p.Asn88Lys
ENST00000526820.5:c.*166C>A	ENSP00000434413.1:n.*166C>A
ENST00000527076.1:n.1280C>A
ENST00000527168.5:n.300C>A
ENST00000529110.1:c.331C>A
ENST00000529957.5:n.363C>A
NM_032520.4:c.264C>A	NP_115909.1:p.Asn88Lys
XM_017023782.1:c.312C>A	XP_016879271.1:p.Asn104Lys
XM_017023783.1:c.-97C>A	XP_016879272.1:n.-97C>A
NM_032520.5:c.264C>A MANE Select	NP_115909.1:p.Asn88Lys