Canonical Allele Identifier: CA1866638624
Community Standard Title: NM_000380.4(XPA):c.323G= (p.Cys108=)
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97689600C= , CM000671.2:g.97689600C= GRCh38
NC_000009.11:g.100451882C= , CM000671.1:g.100451882C= GRCh37
NC_000009.10:g.99491703C= NCBI36
NG_011642.1:g.12810G= , LRG_471:g.12810G=

Transcript Alleles

HGVS Amino-acid Change
NM_000380.4:c.323G= MANE Select NP_000371.1:p.Cys108=
ENST00000375128.5:c.323G= MANE Select ENSP00000364270.5:p.Cys108=
NM_000380.3:c.323G= , LRG_471t1:c.323G= NP_000371.1:p.Cys108=
NM_001354975.1:c.197G= NP_001341904.1:p.Cys66=
NM_001354975.2:c.197G= NP_001341904.1:p.Cys66=
NR_027302.1:n.440G=
NR_027302.2:n.371G=
NR_149091.1:n.400+4049G=
NR_149091.2:n.331+4049G=
NR_149092.1:n.401-2339G=
NR_149092.2:n.332-2339G=
NR_149093.1:n.440G=
NR_149093.2:n.371G=
NR_149094.1:n.401-2339G=
NR_149094.2:n.332-2339G=
ENST00000375128.4:c.323G= ENSP00000364270.4:p.Cys108=
ENST00000462523.5:c.323G= ENSP00000433006.1:p.Cys108=
ENST00000496104.1:n.184-2339G=
XM_006717278.1:c.323G= XP_006717341.1:p.Cys108=
XM_011518988.1:c.323G= XP_011517290.1:p.Cys108=
XR_929839.1:n.434G=