Canonical Allele Identifier: CA2201614071
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361881T= , CM000678.2:g.1361881T= GRCh38
NC_000016.9:g.1411882T= , CM000678.1:g.1411882T= GRCh37
NC_000016.8:g.1351883T= NCBI36
NG_016985.1:g.14983T=
NG_033129.1:g.57824A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.342T=
ENST00000529110.2:c.327T= ENSP00000435349.2:p.Tyr109=
ENST00000529957.6:n.301T=
ENST00000683366.1:c.188T= ENSP00000507283.1:p.Met63=
ENST00000683887.1:c.291T= ENSP00000506886.1:p.Tyr97=
ENST00000684100.1:n.237T=
ENST00000684126.1:n.301T=
ENST00000684688.1:n.868T=
ENST00000204679.9:c.243T= MANE Select ENSP00000204679.4:p.Tyr81=
ENST00000204679.8:c.243T= ENSP00000204679.4:p.Tyr81=
ENST00000526820.5:c.*145T= ENSP00000434413.1:n.*145T=
ENST00000527076.1:n.1259T=
ENST00000527168.5:n.279T=
ENST00000529110.1:c.310T=
ENST00000529957.5:n.342T=
NM_032520.4:c.243T= NP_115909.1:p.Tyr81=
XM_017023782.1:c.291T= XP_016879271.1:p.Tyr97=
XM_017023783.1:c.-118T= XP_016879272.1:n.-118T=
NM_032520.5:c.243T= MANE Select NP_115909.1:p.Tyr81=