Canonical Allele Identifier: CA394188382

Gene: GNPTG

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.712C>G
ENST00000529110.2:c.697C>G	ENSP00000435349.2:p.His233Asp
ENST00000529957.6:n.671C>G
ENST00000683366.1:c.*345C>G	ENSP00000507283.1:n.*345C>G
ENST00000683887.1:c.661C>G	ENSP00000506886.1:p.His221Asp
ENST00000684100.1:n.607C>G
ENST00000684126.1:n.747C>G
ENST00000684688.1:n.1238C>G
ENST00000204679.9:c.613C>G MANE Select	ENSP00000204679.4:p.His205Asp
ENST00000204679.8:c.613C>G	ENSP00000204679.4:p.His205Asp
ENST00000527076.1:n.1836C>G
ENST00000527168.5:n.780C>G
ENST00000529957.5:n.712C>G
NM_032520.4:c.613C>G	NP_115909.1:p.His205Asp
XM_017023782.1:c.661C>G	XP_016879271.1:p.His221Asp
XM_017023783.1:c.253C>G	XP_016879272.1:p.His85Asp
NM_032520.5:c.613C>G MANE Select	NP_115909.1:p.His205Asp