Canonical Allele Identifier: CA1866632267
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675504C= , CM000671.2:g.97675504C= GRCh38
NC_000009.11:g.100437786C= , CM000671.1:g.100437786C= GRCh37
NC_000009.10:g.99477607C= NCBI36
NG_011642.1:g.26906G= , LRG_471:g.26906G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.757G= MANE Select ENSP00000364270.5:p.Glu253=
ENST00000375128.4:c.757G= ENSP00000364270.4:p.Glu253=
ENST00000462523.5:c.*193G= ENSP00000433006.1:n.*193G=
ENST00000485042.1:n.269G=
NM_000380.3:c.757G= , LRG_471t1:c.757G= NP_000371.1:p.Glu253=
NR_027302.1:n.1105G=
XM_006717278.1:c.757G= XP_006717341.1:p.Glu253=
XM_011518988.1:c.757G= XP_011517290.1:p.Glu253=
XR_929839.1:n.1288G=
NM_001354975.1:c.631G= NP_001341904.1:p.Glu211=
NR_149091.1:n.602G=
NR_149092.1:n.768G=
NR_149093.1:n.1294G=
NR_149094.1:n.1188G=
NM_000380.4:c.757G= MANE Select NP_000371.1:p.Glu253=
NM_001354975.2:c.631G= NP_001341904.1:p.Glu211=
NR_027302.2:n.1036G=
NR_149091.2:n.533G=
NR_149092.2:n.699G=
NR_149093.2:n.1225G=
NR_149094.2:n.1119G=