Canonical Allele Identifier: CA493026474

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361938-C-A
• MyVariant Identifiers: chr16:g.1411939C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361938C>A , CM000678.2:g.1361938C>A	GRCh38
NC_000016.9:g.1411939C>A , CM000678.1:g.1411939C>A	GRCh37
NC_000016.8:g.1351940C>A	NCBI36
NG_016985.1:g.15040C>A
NG_033129.1:g.57767G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.399C>A
ENST00000529110.2:c.384C>A	ENSP00000435349.2:p.Ala128=
ENST00000529957.6:n.358C>A
ENST00000683366.1:c.*32C>A	ENSP00000507283.1:n.*32C>A
ENST00000683887.1:c.348C>A	ENSP00000506886.1:p.Ala116=
ENST00000684100.1:n.294C>A
ENST00000684126.1:n.358C>A
ENST00000684688.1:n.925C>A
ENST00000204679.9:c.300C>A MANE Select	ENSP00000204679.4:p.Ala100=
ENST00000204679.8:c.300C>A	ENSP00000204679.4:p.Ala100=
ENST00000526820.5:c.*202C>A	ENSP00000434413.1:n.*202C>A
ENST00000527076.1:n.1316C>A
ENST00000527168.5:n.336C>A
ENST00000529110.1:c.367C>A
ENST00000529957.5:n.399C>A
NM_032520.4:c.300C>A	NP_115909.1:p.Ala100=
XM_017023782.1:c.348C>A	XP_016879271.1:p.Ala116=
XM_017023783.1:c.-61C>A	XP_016879272.1:n.-61C>A
NM_032520.5:c.300C>A MANE Select	NP_115909.1:p.Ala100=