Canonical Allele Identifier: CA1866632301
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675568T= , CM000671.2:g.97675568T= GRCh38
NC_000009.11:g.100437850T= , CM000671.1:g.100437850T= GRCh37
NC_000009.10:g.99477671T= NCBI36
NG_011642.1:g.26842A= , LRG_471:g.26842A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.693A= MANE Select ENSP00000364270.5:p.Arg231=
ENST00000375128.4:c.693A= ENSP00000364270.4:p.Arg231=
ENST00000462523.5:c.*129A= ENSP00000433006.1:n.*129A=
ENST00000485042.1:n.205A=
NM_000380.3:c.693A= , LRG_471t1:c.693A= NP_000371.1:p.Arg231=
NR_027302.1:n.1041A=
XM_006717278.1:c.693A= XP_006717341.1:p.Arg231=
XM_011518988.1:c.693A= XP_011517290.1:p.Arg231=
XR_929839.1:n.1224A=
NM_001354975.1:c.567A= NP_001341904.1:p.Arg189=
NR_149091.1:n.538A=
NR_149092.1:n.704A=
NR_149093.1:n.1230A=
NR_149094.1:n.1124A=
NM_000380.4:c.693A= MANE Select NP_000371.1:p.Arg231=
NM_001354975.2:c.567A= NP_001341904.1:p.Arg189=
NR_027302.2:n.972A=
NR_149091.2:n.469A=
NR_149092.2:n.635A=
NR_149093.2:n.1161A=
NR_149094.2:n.1055A=