Canonical Allele Identifier: CA394187784

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412254G>C (hg19) ; chr16:g.1362253G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362253G>C , CM000678.2:g.1362253G>C	GRCh38
NC_000016.9:g.1412254G>C , CM000678.1:g.1412254G>C	GRCh37
NC_000016.8:g.1352255G>C	NCBI36
NG_016985.1:g.15355G>C
NG_033129.1:g.57452C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.558G>C
ENST00000529110.2:c.543G>C	ENSP00000435349.2:p.Glu181Asp
ENST00000529957.6:n.517G>C
ENST00000683366.1:c.*191G>C	ENSP00000507283.1:n.*191G>C
ENST00000683887.1:c.507G>C	ENSP00000506886.1:p.Glu169Asp
ENST00000684100.1:n.453G>C
ENST00000684126.1:n.517G>C
ENST00000684688.1:n.1084G>C
ENST00000204679.9:c.459G>C MANE Select	ENSP00000204679.4:p.Glu153Asp
ENST00000204679.8:c.459G>C	ENSP00000204679.4:p.Glu153Asp
ENST00000527076.1:n.1475G>C
ENST00000527168.5:n.495G>C
ENST00000529110.1:c.526G>C
ENST00000529957.5:n.558G>C
NM_032520.4:c.459G>C	NP_115909.1:p.Glu153Asp
XM_017023782.1:c.507G>C	XP_016879271.1:p.Glu169Asp
XM_017023783.1:c.99G>C	XP_016879272.1:p.Glu33Asp
NM_032520.5:c.459G>C MANE Select	NP_115909.1:p.Glu153Asp