Canonical Allele Identifier: CA493026486

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1411948G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361947G>C , CM000678.2:g.1361947G>C	GRCh38
NC_000016.9:g.1411948G>C , CM000678.1:g.1411948G>C	GRCh37
NC_000016.8:g.1351949G>C	NCBI36
NG_016985.1:g.15049G>C
NG_033129.1:g.57758C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.408G>C
ENST00000529110.2:c.393G>C	ENSP00000435349.2:p.Gly131=
ENST00000529957.6:n.367G>C
ENST00000683366.1:c.*41G>C	ENSP00000507283.1:n.*41G>C
ENST00000683887.1:c.357G>C	ENSP00000506886.1:p.Gly119=
ENST00000684100.1:n.303G>C
ENST00000684126.1:n.367G>C
ENST00000684688.1:n.934G>C
ENST00000204679.9:c.309G>C MANE Select	ENSP00000204679.4:p.Gly103=
ENST00000204679.8:c.309G>C	ENSP00000204679.4:p.Gly103=
ENST00000526820.5:c.*211G>C	ENSP00000434413.1:n.*211G>C
ENST00000527076.1:n.1325G>C
ENST00000527168.5:n.345G>C
ENST00000529110.1:c.376G>C
ENST00000529957.5:n.408G>C
NM_032520.4:c.309G>C	NP_115909.1:p.Gly103=
XM_017023782.1:c.357G>C	XP_016879271.1:p.Gly119=
XM_017023783.1:c.-52G>C	XP_016879272.1:n.-52G>C
NM_032520.5:c.309G>C MANE Select	NP_115909.1:p.Gly103=