Canonical Allele Identifier: CA718228200

Gene: GNPTG

Linked Data

• dbSNP Id: rs1477866950
• MyVariant Identifiers: chr16:g.1412181C>G (hg19) ; chr16:g.1362180C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362180C>G , CM000678.2:g.1362180C>G	GRCh38
NC_000016.9:g.1412181C>G , CM000678.1:g.1412181C>G	GRCh37
NC_000016.8:g.1352182C>G	NCBI36
NG_016985.1:g.15282C>G
NG_033129.1:g.57525G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.511-26C>G
ENST00000529110.2:c.496-26C>G	ENSP00000435349.2:n.496-26C>G
ENST00000529957.6:n.470-26C>G
ENST00000683366.1:c.*144-26C>G	ENSP00000507283.1:n.*144-26C>G
ENST00000683887.1:c.460-26C>G	ENSP00000506886.1:n.460-26C>G
ENST00000684100.1:n.406-26C>G
ENST00000684126.1:n.470-26C>G
ENST00000684688.1:n.1037-26C>G
ENST00000204679.9:c.412-26C>G MANE Select	ENSP00000204679.4:n.412-26C>G
ENST00000204679.8:c.412-26C>G	ENSP00000204679.4:n.412-26C>G
ENST00000527076.1:n.1428-26C>G
ENST00000527168.5:n.448-26C>G
ENST00000529110.1:c.479-26C>G
ENST00000529957.5:n.511-26C>G
NM_032520.4:c.412-26C>G	NP_115909.1:n.412-26C>G
XM_017023782.1:c.460-26C>G	XP_016879271.1:n.460-26C>G
XM_017023783.1:c.52-26C>G	XP_016879272.1:n.52-26C>G
NM_032520.5:c.412-26C>G MANE Select	NP_115909.1:n.412-26C>G