Canonical Allele Identifier: CA1866632257
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675488C= , CM000671.2:g.97675488C= GRCh38
NC_000009.11:g.100437770C= , CM000671.1:g.100437770C= GRCh37
NC_000009.10:g.99477591C= NCBI36
NG_011642.1:g.26922G= , LRG_471:g.26922G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.773G= MANE Select ENSP00000364270.5:p.Arg258=
ENST00000375128.4:c.773G= ENSP00000364270.4:p.Arg258=
ENST00000462523.5:c.*209G= ENSP00000433006.1:n.*209G=
ENST00000485042.1:n.285G=
NM_000380.3:c.773G= , LRG_471t1:c.773G= NP_000371.1:p.Arg258=
NR_027302.1:n.1121G=
XM_006717278.1:c.772+1G= XP_006717341.1:n.772+1G=
XM_011518988.1:c.772+1G= XP_011517290.1:n.772+1G=
NM_001354975.1:c.647G= NP_001341904.1:p.Arg216=
NR_149091.1:n.618G=
NR_149092.1:n.784G=
NR_149093.1:n.1310G=
NR_149094.1:n.1204G=
NM_000380.4:c.773G= MANE Select NP_000371.1:p.Arg258=
NM_001354975.2:c.647G= NP_001341904.1:p.Arg216=
NR_027302.2:n.1052G=
NR_149091.2:n.549G=
NR_149092.2:n.715G=
NR_149093.2:n.1241G=
NR_149094.2:n.1135G=