Canonical Allele Identifier: CA394187240
Gene: GNPTG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362065C>G , CM000678.2:g.1362065C>G GRCh38
NC_000016.9:g.1412066C>G , CM000678.1:g.1412066C>G GRCh37
NC_000016.8:g.1352067C>G NCBI36
NG_016985.1:g.15167C>G
NG_033129.1:g.57640G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.444C>G
ENST00000529110.2:c.429C>G ENSP00000435349.2:p.Asn143Lys
ENST00000529957.6:n.403C>G
ENST00000683366.1:c.*77C>G ENSP00000507283.1:n.*77C>G
ENST00000683887.1:c.393C>G ENSP00000506886.1:p.Asn131Lys
ENST00000684100.1:n.339C>G
ENST00000684126.1:n.403C>G
ENST00000684688.1:n.970C>G
ENST00000204679.9:c.345C>G MANE Select ENSP00000204679.4:p.Asn115Lys
ENST00000204679.8:c.345C>G ENSP00000204679.4:p.Asn115Lys
ENST00000526820.5:c.*247C>G ENSP00000434413.1:n.*247C>G
ENST00000527076.1:n.1361C>G
ENST00000527168.5:n.381C>G
ENST00000529110.1:c.412C>G
ENST00000529957.5:n.444C>G
NM_032520.4:c.345C>G NP_115909.1:p.Asn115Lys
XM_017023782.1:c.393C>G XP_016879271.1:p.Asn131Lys
XM_017023783.1:c.-16C>G XP_016879272.1:n.-16C>G
NM_032520.5:c.345C>G MANE Select NP_115909.1:p.Asn115Lys