Canonical Allele Identifier: CA394188833

Gene: GNPTG

Linked Data

• dbSNP Id: rs1596616573
• MyVariant Identifiers: chr16:g.1412909T>G (hg19) ; chr16:g.1362908T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362908T>G , CM000678.2:g.1362908T>G	GRCh38
NC_000016.9:g.1412909T>G , CM000678.1:g.1412909T>G	GRCh37
NC_000016.8:g.1352910T>G	NCBI36
NG_016985.1:g.16010T>G
NG_033129.1:g.56797A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.922+2T>G
ENST00000529110.2:c.907+2T>G	ENSP00000435349.2:n.907+2T>G
ENST00000529957.6:n.881+2T>G
ENST00000683366.1:c.*555+2T>G	ENSP00000507283.1:n.*555+2T>G
ENST00000683887.1:c.871+2T>G	ENSP00000506886.1:n.871+2T>G
ENST00000684100.1:n.817+2T>G
ENST00000684126.1:n.957+2T>G
ENST00000684688.1:n.1448+2T>G
ENST00000204679.9:c.823+2T>G MANE Select	ENSP00000204679.4:n.823+2T>G
ENST00000204679.8:c.823+2T>G	ENSP00000204679.4:n.823+2T>G
ENST00000527076.1:n.2046+2T>G
ENST00000527168.5:n.990+2T>G
NM_032520.4:c.823+2T>G	NP_115909.1:n.823+2T>G
XM_017023782.1:c.871+2T>G	XP_016879271.1:n.871+2T>G
XM_017023783.1:c.463+2T>G	XP_016879272.1:n.463+2T>G
NM_032520.5:c.823+2T>G MANE Select	NP_115909.1:n.823+2T>G