Canonical Allele Identifier: CA394188911

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1363030-C-G
• MyVariant Identifiers: chr16:g.1413031C>G (hg19) ; chr16:g.1363030C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1363030C>G , CM000678.2:g.1363030C>G	GRCh38
NC_000016.9:g.1413031C>G , CM000678.1:g.1413031C>G	GRCh37
NC_000016.8:g.1353032C>G	NCBI36
NG_016985.1:g.16132C>G
NG_033129.1:g.56675G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.956C>G
ENST00000529110.2:c.941C>G	ENSP00000435349.2:p.Thr314Arg
ENST00000529957.6:n.915C>G
ENST00000683366.1:c.*589C>G	ENSP00000507283.1:n.*589C>G
ENST00000683887.1:c.905C>G	ENSP00000506886.1:p.Thr302Arg
ENST00000684100.1:n.851C>G
ENST00000684126.1:n.991C>G
ENST00000684688.1:n.1482C>G
ENST00000204679.9:c.857C>G MANE Select	ENSP00000204679.4:p.Thr286Arg
ENST00000204679.8:c.857C>G	ENSP00000204679.4:p.Thr286Arg
ENST00000527076.1:n.2080C>G
ENST00000527168.5:n.1024C>G
NM_032520.4:c.857C>G	NP_115909.1:p.Thr286Arg
XM_017023782.1:c.905C>G	XP_016879271.1:p.Thr302Arg
XM_017023783.1:c.497C>G	XP_016879272.1:p.Thr166Arg
NM_032520.5:c.857C>G MANE Select	NP_115909.1:p.Thr286Arg