Canonical Allele Identifier: CA276657473

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1486491
• ClinVar RCV Id: RCV002003629
• dbSNP Id: rs113388753
• gnomAD v4: 16-1362258-G-A
• MyVariant Identifiers: chr16:g.1412259G>A (hg19) ; chr16:g.1362258G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362258G>A , CM000678.2:g.1362258G>A	GRCh38
NC_000016.9:g.1412259G>A , CM000678.1:g.1412259G>A	GRCh37
NC_000016.8:g.1352260G>A	NCBI36
NG_016985.1:g.15360G>A
NG_033129.1:g.57447C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.563G>A
ENST00000529110.2:c.548G>A	ENSP00000435349.2:p.Ser183Asn
ENST00000529957.6:n.522G>A
ENST00000683366.1:c.*196G>A	ENSP00000507283.1:n.*196G>A
ENST00000683887.1:c.512G>A	ENSP00000506886.1:p.Ser171Asn
ENST00000684100.1:n.458G>A
ENST00000684126.1:n.522G>A
ENST00000684688.1:n.1089G>A
ENST00000204679.9:c.464G>A MANE Select	ENSP00000204679.4:p.Ser155Asn
ENST00000204679.8:c.464G>A	ENSP00000204679.4:p.Ser155Asn
ENST00000527076.1:n.1480G>A
ENST00000527168.5:n.500G>A
ENST00000529110.1:c.531G>A
ENST00000529957.5:n.563G>A
NM_032520.4:c.464G>A	NP_115909.1:p.Ser155Asn
XM_017023782.1:c.512G>A	XP_016879271.1:p.Ser171Asn
XM_017023783.1:c.104G>A	XP_016879272.1:p.Ser35Asn
NM_032520.5:c.464G>A MANE Select	NP_115909.1:p.Ser155Asn