Canonical Allele Identifier: CA2201592190
Community Standard Title: NM_032520.5(GNPTG):c.74C= (p.Ala25=)
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1352123C= , CM000678.2:g.1352123C= GRCh38
NC_000016.9:g.1402124C= , CM000678.1:g.1402124C= GRCh37
NC_000016.8:g.1342125C= NCBI36
NG_016985.1:g.5225C=

Transcript Alleles

HGVS Amino-acid Change
NM_032520.5:c.74C= MANE Select NP_115909.1:p.Ala25=
ENST00000204679.9:c.74C= MANE Select ENSP00000204679.4:p.Ala25=
NM_032520.4:c.74C= NP_115909.1:p.Ala25=
ENST00000204679.8:c.74C= ENSP00000204679.4:p.Ala25=
ENST00000526820.5:c.74C= ENSP00000434413.1:p.Ala25=
ENST00000527137.2:c.74C= ENSP00000480060.1:p.Ala25=
ENST00000527168.5:n.86C=
ENST00000527168.6:n.94C=
ENST00000527876.5:c.74C= ENSP00000460728.1:p.Ala25=
ENST00000529110.1:c.141C=
ENST00000529110.2:c.158C= ENSP00000435349.2:p.Ala53=
ENST00000529957.5:n.94C=
ENST00000529957.6:n.53C=
ENST00000534197.5:n.92C=
ENST00000683366.1:c.74C= ENSP00000507283.1:p.Ala25=
ENST00000683887.1:c.74C= ENSP00000506886.1:p.Ala25=
ENST00000684126.1:n.53C=
XM_017023782.1:c.74C= XP_016879271.1:p.Ala25=