Canonical Allele Identifier: CA1866632240
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675454T= , CM000671.2:g.97675454T= GRCh38
NC_000009.11:g.100437736T= , CM000671.1:g.100437736T= GRCh37
NC_000009.10:g.99477557T= NCBI36
NG_011642.1:g.26956A= , LRG_471:g.26956A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.807A= MANE Select ENSP00000364270.5:p.Thr269=
ENST00000375128.4:c.807A= ENSP00000364270.4:p.Thr269=
ENST00000462523.5:c.*243A= ENSP00000433006.1:n.*243A=
ENST00000485042.1:n.319A=
NM_000380.3:c.807A= , LRG_471t1:c.807A= NP_000371.1:p.Thr269=
NR_027302.1:n.1155A=
XM_006717278.1:c.772+35A= XP_006717341.1:n.772+35A=
XM_011518988.1:c.772+35A= XP_011517290.1:n.772+35A=
NM_001354975.1:c.681A= NP_001341904.1:p.Thr227=
NR_149091.1:n.652A=
NR_149092.1:n.818A=
NR_149093.1:n.1344A=
NR_149094.1:n.1238A=
NM_000380.4:c.807A= MANE Select NP_000371.1:p.Thr269=
NM_001354975.2:c.681A= NP_001341904.1:p.Thr227=
NR_027302.2:n.1086A=
NR_149091.2:n.583A=
NR_149092.2:n.749A=
NR_149093.2:n.1275A=
NR_149094.2:n.1169A=