Canonical Allele Identifier: CA1873367660
Community Standard Title: NM_000031.6(ALAD):c.36C= (p.Phe12=)
Gene: ALAD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113393524G= , CM000671.2:g.113393524G= GRCh38
NC_000009.11:g.116155804G= , CM000671.1:g.116155804G= GRCh37
NC_000009.10:g.115195625G= NCBI36
NG_008716.1:g.12815C=

Transcript Alleles

HGVS Amino-acid Change
NM_000031.6:c.36C= MANE Select NP_000022.3:p.Phe12=
ENST00000409155.8:c.36C= MANE Select ENSP00000386284.3:p.Phe12=
NM_000031.5:c.36C= NP_000022.3:p.Phe12=
NM_001003945.2:c.-44C= NP_001003945.1:n.-44C=
NM_001003945.3:c.-44C= NP_001003945.1:n.-44C=
NM_001317745.1:c.63C= NP_001304674.1:p.Phe21=
NM_001317745.2:c.63C= NP_001304674.1:p.Phe21=
ENST00000409155.7:c.36C= ENSP00000386284.3:p.Phe12=
ENST00000448137.5:c.63C= ENSP00000392748.1:p.Phe21=
ENST00000452726.1:c.63C= ENSP00000415737.1:p.Phe21=
ENST00000464749.5:n.180C=
ENST00000468504.5:n.158C=
ENST00000482847.5:n.143C=
ENST00000494848.1:n.184C=
XM_005251799.1:c.-44C= XP_005251856.1:n.-44C=
XM_011518363.1:c.162C= XP_011516665.1:p.Phe54=
XM_011518364.1:c.63C= XP_011516666.1:p.Phe21=
XM_011518364.2:c.63C= XP_011516666.1:p.Phe21=
XM_024447449.1:c.-44C= XP_024303217.1:n.-44C=
XR_002956764.1:n.536C=