Canonical Allele Identifier: CA394187697
Gene: GNPTG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362231A>G , CM000678.2:g.1362231A>G GRCh38
NC_000016.9:g.1412232A>G , CM000678.1:g.1412232A>G GRCh37
NC_000016.8:g.1352233A>G NCBI36
NG_016985.1:g.15333A>G
NG_033129.1:g.57474T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.536A>G
ENST00000529110.2:c.521A>G ENSP00000435349.2:p.Asn174Ser
ENST00000529957.6:n.495A>G
ENST00000683366.1:c.*169A>G ENSP00000507283.1:n.*169A>G
ENST00000683887.1:c.485A>G ENSP00000506886.1:p.Asn162Ser
ENST00000684100.1:n.431A>G
ENST00000684126.1:n.495A>G
ENST00000684688.1:n.1062A>G
ENST00000204679.9:c.437A>G MANE Select ENSP00000204679.4:p.Asn146Ser
ENST00000204679.8:c.437A>G ENSP00000204679.4:p.Asn146Ser
ENST00000527076.1:n.1453A>G
ENST00000527168.5:n.473A>G
ENST00000529110.1:c.504A>G
ENST00000529957.5:n.536A>G
NM_032520.4:c.437A>G NP_115909.1:p.Asn146Ser
XM_017023782.1:c.485A>G XP_016879271.1:p.Asn162Ser
XM_017023783.1:c.77A>G XP_016879272.1:p.Asn26Ser
NM_032520.5:c.437A>G MANE Select NP_115909.1:p.Asn146Ser