Canonical Allele Identifier: CA493026750

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412906A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362905A>C , CM000678.2:g.1362905A>C	GRCh38
NC_000016.9:g.1412906A>C , CM000678.1:g.1412906A>C	GRCh37
NC_000016.8:g.1352907A>C	NCBI36
NG_016985.1:g.16007A>C
NG_033129.1:g.56800T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.921A>C
ENST00000529110.2:c.906A>C	ENSP00000435349.2:p.Thr302=
ENST00000529957.6:n.880A>C
ENST00000683366.1:c.*554A>C	ENSP00000507283.1:n.*554A>C
ENST00000683887.1:c.870A>C	ENSP00000506886.1:p.Thr290=
ENST00000684100.1:n.816A>C
ENST00000684126.1:n.956A>C
ENST00000684688.1:n.1447A>C
ENST00000204679.9:c.822A>C MANE Select	ENSP00000204679.4:p.Thr274=
ENST00000204679.8:c.822A>C	ENSP00000204679.4:p.Thr274=
ENST00000527076.1:n.2045A>C
ENST00000527168.5:n.989A>C
ENST00000529957.5:n.921A>C
NM_032520.4:c.822A>C	NP_115909.1:p.Thr274=
XM_017023782.1:c.870A>C	XP_016879271.1:p.Thr290=
XM_017023783.1:c.462A>C	XP_016879272.1:p.Thr154=
NM_032520.5:c.822A>C MANE Select	NP_115909.1:p.Thr274=