Canonical Allele Identifier: CA2201614958
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362249C= , CM000678.2:g.1362249C= GRCh38
NC_000016.9:g.1412250C= , CM000678.1:g.1412250C= GRCh37
NC_000016.8:g.1352251C= NCBI36
NG_016985.1:g.15351C=
NG_033129.1:g.57456G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.554C=
ENST00000529110.2:c.539C= ENSP00000435349.2:p.Ser180=
ENST00000529957.6:n.513C=
ENST00000683366.1:c.*187C= ENSP00000507283.1:n.*187C=
ENST00000683887.1:c.503C= ENSP00000506886.1:p.Ser168=
ENST00000684100.1:n.449C=
ENST00000684126.1:n.513C=
ENST00000684688.1:n.1080C=
ENST00000204679.9:c.455C= MANE Select ENSP00000204679.4:p.Ser152=
ENST00000204679.8:c.455C= ENSP00000204679.4:p.Ser152=
ENST00000527076.1:n.1471C=
ENST00000527168.5:n.491C=
ENST00000529110.1:c.522C=
ENST00000529957.5:n.554C=
NM_032520.4:c.455C= NP_115909.1:p.Ser152=
XM_017023782.1:c.503C= XP_016879271.1:p.Ser168=
XM_017023783.1:c.95C= XP_016879272.1:p.Ser32=
NM_032520.5:c.455C= MANE Select NP_115909.1:p.Ser152=