Canonical Allele Identifier: CA394187691
Gene: GNPTG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362230A>G , CM000678.2:g.1362230A>G GRCh38
NC_000016.9:g.1412231A>G , CM000678.1:g.1412231A>G GRCh37
NC_000016.8:g.1352232A>G NCBI36
NG_016985.1:g.15332A>G
NG_033129.1:g.57475T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.535A>G
ENST00000529110.2:c.520A>G ENSP00000435349.2:p.Asn174Asp
ENST00000529957.6:n.494A>G
ENST00000683366.1:c.*168A>G ENSP00000507283.1:n.*168A>G
ENST00000683887.1:c.484A>G ENSP00000506886.1:p.Asn162Asp
ENST00000684100.1:n.430A>G
ENST00000684126.1:n.494A>G
ENST00000684688.1:n.1061A>G
ENST00000204679.9:c.436A>G MANE Select ENSP00000204679.4:p.Asn146Asp
ENST00000204679.8:c.436A>G ENSP00000204679.4:p.Asn146Asp
ENST00000527076.1:n.1452A>G
ENST00000527168.5:n.472A>G
ENST00000529110.1:c.503A>G
ENST00000529957.5:n.535A>G
NM_032520.4:c.436A>G NP_115909.1:p.Asn146Asp
XM_017023782.1:c.484A>G XP_016879271.1:p.Asn162Asp
XM_017023783.1:c.76A>G XP_016879272.1:p.Asn26Asp
NM_032520.5:c.436A>G MANE Select NP_115909.1:p.Asn146Asp