Canonical Allele Identifier: CA394188420

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412632G>C (hg19) ; chr16:g.1362631G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362631G>C , CM000678.2:g.1362631G>C	GRCh38
NC_000016.9:g.1412632G>C , CM000678.1:g.1412632G>C	GRCh37
NC_000016.8:g.1352633G>C	NCBI36
NG_016985.1:g.15733G>C
NG_033129.1:g.57074C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.729G>C
ENST00000529110.2:c.714G>C	ENSP00000435349.2:p.Arg238Ser
ENST00000529957.6:n.688G>C
ENST00000683366.1:c.*362G>C	ENSP00000507283.1:n.*362G>C
ENST00000683887.1:c.678G>C	ENSP00000506886.1:p.Arg226Ser
ENST00000684100.1:n.624G>C
ENST00000684126.1:n.764G>C
ENST00000684688.1:n.1255G>C
ENST00000204679.9:c.630G>C MANE Select	ENSP00000204679.4:p.Arg210Ser
ENST00000204679.8:c.630G>C	ENSP00000204679.4:p.Arg210Ser
ENST00000527076.1:n.1853G>C
ENST00000527168.5:n.797G>C
ENST00000529957.5:n.729G>C
NM_032520.4:c.630G>C	NP_115909.1:p.Arg210Ser
XM_017023782.1:c.678G>C	XP_016879271.1:p.Arg226Ser
XM_017023783.1:c.270G>C	XP_016879272.1:p.Arg90Ser
NM_032520.5:c.630G>C MANE Select	NP_115909.1:p.Arg210Ser