Canonical Allele Identifier: CA394187743

Gene: GNPTG

Linked Data

• dbSNP Id: rs1412046505
• gnomAD v2: 16-1412244-A-G
• gnomAD v4: 16-1362243-A-G
• MyVariant Identifiers: chr16:g.1412244A>G (hg19) ; chr16:g.1362243A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362243A>G , CM000678.2:g.1362243A>G	GRCh38
NC_000016.9:g.1412244A>G , CM000678.1:g.1412244A>G	GRCh37
NC_000016.8:g.1352245A>G	NCBI36
NG_016985.1:g.15345A>G
NG_033129.1:g.57462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.548A>G
ENST00000529110.2:c.533A>G	ENSP00000435349.2:p.His178Arg
ENST00000529957.6:n.507A>G
ENST00000683366.1:c.*181A>G	ENSP00000507283.1:n.*181A>G
ENST00000683887.1:c.497A>G	ENSP00000506886.1:p.His166Arg
ENST00000684100.1:n.443A>G
ENST00000684126.1:n.507A>G
ENST00000684688.1:n.1074A>G
ENST00000204679.9:c.449A>G MANE Select	ENSP00000204679.4:p.His150Arg
ENST00000204679.8:c.449A>G	ENSP00000204679.4:p.His150Arg
ENST00000527076.1:n.1465A>G
ENST00000527168.5:n.485A>G
ENST00000529110.1:c.516A>G
ENST00000529957.5:n.548A>G
NM_032520.4:c.449A>G	NP_115909.1:p.His150Arg
XM_017023782.1:c.497A>G	XP_016879271.1:p.His166Arg
XM_017023783.1:c.89A>G	XP_016879272.1:p.His30Arg
NM_032520.5:c.449A>G MANE Select	NP_115909.1:p.His150Arg