Canonical Allele Identifier: CA394188381

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412615C>A (hg19) ; chr16:g.1362614C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362614C>A , CM000678.2:g.1362614C>A	GRCh38
NC_000016.9:g.1412615C>A , CM000678.1:g.1412615C>A	GRCh37
NC_000016.8:g.1352616C>A	NCBI36
NG_016985.1:g.15716C>A
NG_033129.1:g.57091G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.712C>A
ENST00000529110.2:c.697C>A	ENSP00000435349.2:p.His233Asn
ENST00000529957.6:n.671C>A
ENST00000683366.1:c.*345C>A	ENSP00000507283.1:n.*345C>A
ENST00000683887.1:c.661C>A	ENSP00000506886.1:p.His221Asn
ENST00000684100.1:n.607C>A
ENST00000684126.1:n.747C>A
ENST00000684688.1:n.1238C>A
ENST00000204679.9:c.613C>A MANE Select	ENSP00000204679.4:p.His205Asn
ENST00000204679.8:c.613C>A	ENSP00000204679.4:p.His205Asn
ENST00000527076.1:n.1836C>A
ENST00000527168.5:n.780C>A
ENST00000529957.5:n.712C>A
NM_032520.4:c.613C>A	NP_115909.1:p.His205Asn
XM_017023782.1:c.661C>A	XP_016879271.1:p.His221Asn
XM_017023783.1:c.253C>A	XP_016879272.1:p.His85Asn
NM_032520.5:c.613C>A MANE Select	NP_115909.1:p.His205Asn