Canonical Allele Identifier: CA394187038

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411946G>C (hg19) ; chr16:g.1361945G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361945G>C , CM000678.2:g.1361945G>C	GRCh38
NC_000016.9:g.1411946G>C , CM000678.1:g.1411946G>C	GRCh37
NC_000016.8:g.1351947G>C	NCBI36
NG_016985.1:g.15047G>C
NG_033129.1:g.57760C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.406G>C
ENST00000529110.2:c.391G>C	ENSP00000435349.2:p.Gly131Arg
ENST00000529957.6:n.365G>C
ENST00000683366.1:c.*39G>C	ENSP00000507283.1:n.*39G>C
ENST00000683887.1:c.355G>C	ENSP00000506886.1:p.Gly119Arg
ENST00000684100.1:n.301G>C
ENST00000684126.1:n.365G>C
ENST00000684688.1:n.932G>C
ENST00000204679.9:c.307G>C MANE Select	ENSP00000204679.4:p.Gly103Arg
ENST00000204679.8:c.307G>C	ENSP00000204679.4:p.Gly103Arg
ENST00000526820.5:c.*209G>C	ENSP00000434413.1:n.*209G>C
ENST00000527076.1:n.1323G>C
ENST00000527168.5:n.343G>C
ENST00000529110.1:c.374G>C
ENST00000529957.5:n.406G>C
NM_032520.4:c.307G>C	NP_115909.1:p.Gly103Arg
XM_017023782.1:c.355G>C	XP_016879271.1:p.Gly119Arg
XM_017023783.1:c.-54G>C	XP_016879272.1:n.-54G>C
NM_032520.5:c.307G>C MANE Select	NP_115909.1:p.Gly103Arg