Canonical Allele Identifier: CA2201614145
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361909C= , CM000678.2:g.1361909C= GRCh38
NC_000016.9:g.1411910C= , CM000678.1:g.1411910C= GRCh37
NC_000016.8:g.1351911C= NCBI36
NG_016985.1:g.15011C=
NG_033129.1:g.57796G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.370C=
ENST00000529110.2:c.355C= ENSP00000435349.2:p.Gln119=
ENST00000529957.6:n.329C=
ENST00000683366.1:c.*3C= ENSP00000507283.1:n.*3C=
ENST00000683887.1:c.319C= ENSP00000506886.1:p.Gln107=
ENST00000684100.1:n.265C=
ENST00000684126.1:n.329C=
ENST00000684688.1:n.896C=
ENST00000204679.9:c.271C= MANE Select ENSP00000204679.4:p.Gln91=
ENST00000204679.8:c.271C= ENSP00000204679.4:p.Gln91=
ENST00000526820.5:c.*173C= ENSP00000434413.1:n.*173C=
ENST00000527076.1:n.1287C=
ENST00000527168.5:n.307C=
ENST00000529110.1:c.338C=
ENST00000529957.5:n.370C=
NM_032520.4:c.271C= NP_115909.1:p.Gln91=
XM_017023782.1:c.319C= XP_016879271.1:p.Gln107=
XM_017023783.1:c.-90C= XP_016879272.1:n.-90C=
NM_032520.5:c.271C= MANE Select NP_115909.1:p.Gln91=