Canonical Allele Identifier: CA493026506

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362241-C-G
• MyVariant Identifiers: chr16:g.1412242C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362241C>G , CM000678.2:g.1362241C>G	GRCh38
NC_000016.9:g.1412242C>G , CM000678.1:g.1412242C>G	GRCh37
NC_000016.8:g.1352243C>G	NCBI36
NG_016985.1:g.15343C>G
NG_033129.1:g.57464G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.546C>G
ENST00000529110.2:c.531C>G	ENSP00000435349.2:p.Ala177=
ENST00000529957.6:n.505C>G
ENST00000683366.1:c.*179C>G	ENSP00000507283.1:n.*179C>G
ENST00000683887.1:c.495C>G	ENSP00000506886.1:p.Ala165=
ENST00000684100.1:n.441C>G
ENST00000684126.1:n.505C>G
ENST00000684688.1:n.1072C>G
ENST00000204679.9:c.447C>G MANE Select	ENSP00000204679.4:p.Ala149=
ENST00000204679.8:c.447C>G	ENSP00000204679.4:p.Ala149=
ENST00000527076.1:n.1463C>G
ENST00000527168.5:n.483C>G
ENST00000529110.1:c.514C>G
ENST00000529957.5:n.546C>G
NM_032520.4:c.447C>G	NP_115909.1:p.Ala149=
XM_017023782.1:c.495C>G	XP_016879271.1:p.Ala165=
XM_017023783.1:c.87C>G	XP_016879272.1:p.Ala29=
NM_032520.5:c.447C>G MANE Select	NP_115909.1:p.Ala149=