Canonical Allele Identifier: CA394188042

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412456A>G (hg19) ; chr16:g.1362455A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362455A>G , CM000678.2:g.1362455A>G	GRCh38
NC_000016.9:g.1412456A>G , CM000678.1:g.1412456A>G	GRCh37
NC_000016.8:g.1352457A>G	NCBI36
NG_016985.1:g.15557A>G
NG_033129.1:g.57250T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.629A>G
ENST00000529110.2:c.614A>G	ENSP00000435349.2:p.Tyr205Cys
ENST00000529957.6:n.588A>G
ENST00000683366.1:c.*262A>G	ENSP00000507283.1:n.*262A>G
ENST00000683887.1:c.578A>G	ENSP00000506886.1:p.Tyr193Cys
ENST00000684100.1:n.524A>G
ENST00000684126.1:n.588A>G
ENST00000684688.1:n.1155A>G
ENST00000204679.9:c.530A>G MANE Select	ENSP00000204679.4:p.Tyr177Cys
ENST00000204679.8:c.530A>G	ENSP00000204679.4:p.Tyr177Cys
ENST00000527076.1:n.1677A>G
ENST00000527168.5:n.697A>G
ENST00000529957.5:n.629A>G
NM_032520.4:c.530A>G	NP_115909.1:p.Tyr177Cys
XM_017023782.1:c.578A>G	XP_016879271.1:p.Tyr193Cys
XM_017023783.1:c.170A>G	XP_016879272.1:p.Tyr57Cys
NM_032520.5:c.530A>G MANE Select	NP_115909.1:p.Tyr177Cys