Canonical Allele Identifier: CA394186849

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411898C>A (hg19) ; chr16:g.1361897C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361897C>A , CM000678.2:g.1361897C>A	GRCh38
NC_000016.9:g.1411898C>A , CM000678.1:g.1411898C>A	GRCh37
NC_000016.8:g.1351899C>A	NCBI36
NG_016985.1:g.14999C>A
NG_033129.1:g.57808G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.358C>A
ENST00000529110.2:c.343C>A	ENSP00000435349.2:p.His115Asn
ENST00000529957.6:n.317C>A
ENST00000683366.1:c.204C>A	ENSP00000507283.1:p.Ser68=
ENST00000683887.1:c.307C>A	ENSP00000506886.1:p.His103Asn
ENST00000684100.1:n.253C>A
ENST00000684126.1:n.317C>A
ENST00000684688.1:n.884C>A
ENST00000204679.9:c.259C>A MANE Select	ENSP00000204679.4:p.His87Asn
ENST00000204679.8:c.259C>A	ENSP00000204679.4:p.His87Asn
ENST00000526820.5:c.*161C>A	ENSP00000434413.1:n.*161C>A
ENST00000527076.1:n.1275C>A
ENST00000527168.5:n.295C>A
ENST00000529110.1:c.326C>A
ENST00000529957.5:n.358C>A
NM_032520.4:c.259C>A	NP_115909.1:p.His87Asn
XM_017023782.1:c.307C>A	XP_016879271.1:p.His103Asn
XM_017023783.1:c.-102C>A	XP_016879272.1:n.-102C>A
NM_032520.5:c.259C>A MANE Select	NP_115909.1:p.His87Asn