Canonical Allele Identifier: CA493026527

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412063C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362062C>G , CM000678.2:g.1362062C>G	GRCh38
NC_000016.9:g.1412063C>G , CM000678.1:g.1412063C>G	GRCh37
NC_000016.8:g.1352064C>G	NCBI36
NG_016985.1:g.15164C>G
NG_033129.1:g.57643G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.441C>G
ENST00000529110.2:c.426C>G	ENSP00000435349.2:p.Ala142=
ENST00000529957.6:n.400C>G
ENST00000683366.1:c.*74C>G	ENSP00000507283.1:n.*74C>G
ENST00000683887.1:c.390C>G	ENSP00000506886.1:p.Ala130=
ENST00000684100.1:n.336C>G
ENST00000684126.1:n.400C>G
ENST00000684688.1:n.967C>G
ENST00000204679.9:c.342C>G MANE Select	ENSP00000204679.4:p.Ala114=
ENST00000204679.8:c.342C>G	ENSP00000204679.4:p.Ala114=
ENST00000526820.5:c.*244C>G	ENSP00000434413.1:n.*244C>G
ENST00000527076.1:n.1358C>G
ENST00000527168.5:n.378C>G
ENST00000529110.1:c.409C>G
ENST00000529957.5:n.441C>G
NM_032520.4:c.342C>G	NP_115909.1:p.Ala114=
XM_017023782.1:c.390C>G	XP_016879271.1:p.Ala130=
XM_017023783.1:c.-19C>G	XP_016879272.1:n.-19C>G
NM_032520.5:c.342C>G MANE Select	NP_115909.1:p.Ala114=