Canonical Allele Identifier: CA493026626

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362513-C-A
• MyVariant Identifiers: chr16:g.1412514C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362513C>A , CM000678.2:g.1362513C>A	GRCh38
NC_000016.9:g.1412514C>A , CM000678.1:g.1412514C>A	GRCh37
NC_000016.8:g.1352515C>A	NCBI36
NG_016985.1:g.15615C>A
NG_033129.1:g.57192G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.687C>A
ENST00000529110.2:c.672C>A	ENSP00000435349.2:p.Ala224=
ENST00000529957.6:n.646C>A
ENST00000683366.1:c.*320C>A	ENSP00000507283.1:n.*320C>A
ENST00000683887.1:c.636C>A	ENSP00000506886.1:p.Ala212=
ENST00000684100.1:n.582C>A
ENST00000684126.1:n.646C>A
ENST00000684688.1:n.1213C>A
ENST00000204679.9:c.588C>A MANE Select	ENSP00000204679.4:p.Ala196=
ENST00000204679.8:c.588C>A	ENSP00000204679.4:p.Ala196=
ENST00000527076.1:n.1735C>A
ENST00000527168.5:n.755C>A
ENST00000529957.5:n.687C>A
NM_032520.4:c.588C>A	NP_115909.1:p.Ala196=
XM_017023782.1:c.636C>A	XP_016879271.1:p.Ala212=
XM_017023783.1:c.228C>A	XP_016879272.1:p.Ala76=
NM_032520.5:c.588C>A MANE Select	NP_115909.1:p.Ala196=