Canonical Allele Identifier: CA276656976

Gene: GNPTG

Linked Data

• dbSNP Id: rs138297609
• gnomAD v2: 16-1412065-A-G
• gnomAD v4: 16-1362064-A-G
• MyVariant Identifiers: chr16:g.1412065A>G (hg19) ; chr16:g.1362064A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362064A>G , CM000678.2:g.1362064A>G	GRCh38
NC_000016.9:g.1412065A>G , CM000678.1:g.1412065A>G	GRCh37
NC_000016.8:g.1352066A>G	NCBI36
NG_016985.1:g.15166A>G
NG_033129.1:g.57641T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.443A>G
ENST00000529110.2:c.428A>G	ENSP00000435349.2:p.Asn143Ser
ENST00000529957.6:n.402A>G
ENST00000683366.1:c.*76A>G	ENSP00000507283.1:n.*76A>G
ENST00000683887.1:c.392A>G	ENSP00000506886.1:p.Asn131Ser
ENST00000684100.1:n.338A>G
ENST00000684126.1:n.402A>G
ENST00000684688.1:n.969A>G
ENST00000204679.9:c.344A>G MANE Select	ENSP00000204679.4:p.Asn115Ser
ENST00000204679.8:c.344A>G	ENSP00000204679.4:p.Asn115Ser
ENST00000526820.5:c.*246A>G	ENSP00000434413.1:n.*246A>G
ENST00000527076.1:n.1360A>G
ENST00000527168.5:n.380A>G
ENST00000529110.1:c.411A>G
ENST00000529957.5:n.443A>G
NM_032520.4:c.344A>G	NP_115909.1:p.Asn115Ser
XM_017023782.1:c.392A>G	XP_016879271.1:p.Asn131Ser
XM_017023783.1:c.-17A>G	XP_016879272.1:n.-17A>G
NM_032520.5:c.344A>G MANE Select	NP_115909.1:p.Asn115Ser