Canonical Allele Identifier: CA394187203

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362049-A-C
• MyVariant Identifiers: chr16:g.1412050A>C (hg19) ; chr16:g.1362049A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362049A>C , CM000678.2:g.1362049A>C	GRCh38
NC_000016.9:g.1412050A>C , CM000678.1:g.1412050A>C	GRCh37
NC_000016.8:g.1352051A>C	NCBI36
NG_016985.1:g.15151A>C
NG_033129.1:g.57656T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.428A>C
ENST00000529110.2:c.413A>C	ENSP00000435349.2:p.Glu138Ala
ENST00000529957.6:n.387A>C
ENST00000683366.1:c.*61A>C	ENSP00000507283.1:n.*61A>C
ENST00000683887.1:c.377A>C	ENSP00000506886.1:p.Glu126Ala
ENST00000684100.1:n.323A>C
ENST00000684126.1:n.387A>C
ENST00000684688.1:n.954A>C
ENST00000204679.9:c.329A>C MANE Select	ENSP00000204679.4:p.Glu110Ala
ENST00000204679.8:c.329A>C	ENSP00000204679.4:p.Glu110Ala
ENST00000526820.5:c.*231A>C	ENSP00000434413.1:n.*231A>C
ENST00000527076.1:n.1345A>C
ENST00000527168.5:n.365A>C
ENST00000529110.1:c.396A>C
ENST00000529957.5:n.428A>C
NM_032520.4:c.329A>C	NP_115909.1:p.Glu110Ala
XM_017023782.1:c.377A>C	XP_016879271.1:p.Glu126Ala
XM_017023783.1:c.-32A>C	XP_016879272.1:n.-32A>C
NM_032520.5:c.329A>C MANE Select	NP_115909.1:p.Glu110Ala