Canonical Allele Identifier: CA394187267

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412079G>A (hg19) ; chr16:g.1362078G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362078G>A , CM000678.2:g.1362078G>A	GRCh38
NC_000016.9:g.1412079G>A , CM000678.1:g.1412079G>A	GRCh37
NC_000016.8:g.1352080G>A	NCBI36
NG_016985.1:g.15180G>A
NG_033129.1:g.57627C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.457G>A
ENST00000529110.2:c.442G>A	ENSP00000435349.2:p.Gly148Ser
ENST00000529957.6:n.416G>A
ENST00000683366.1:c.*90G>A	ENSP00000507283.1:n.*90G>A
ENST00000683887.1:c.406G>A	ENSP00000506886.1:p.Gly136Ser
ENST00000684100.1:n.352G>A
ENST00000684126.1:n.416G>A
ENST00000684688.1:n.983G>A
ENST00000204679.9:c.358G>A MANE Select	ENSP00000204679.4:p.Gly120Ser
ENST00000204679.8:c.358G>A	ENSP00000204679.4:p.Gly120Ser
ENST00000526820.5:c.*260G>A	ENSP00000434413.1:n.*260G>A
ENST00000527076.1:n.1374G>A
ENST00000527168.5:n.394G>A
ENST00000529110.1:c.425G>A
ENST00000529957.5:n.457G>A
NM_032520.4:c.358G>A	NP_115909.1:p.Gly120Ser
XM_017023782.1:c.406G>A	XP_016879271.1:p.Gly136Ser
XM_017023783.1:c.-3G>A	XP_016879272.1:n.-3G>A
NM_032520.5:c.358G>A MANE Select	NP_115909.1:p.Gly120Ser