Canonical Allele Identifier: CA1866632254
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675486T= , CM000671.2:g.97675486T= GRCh38
NC_000009.11:g.100437768T= , CM000671.1:g.100437768T= GRCh37
NC_000009.10:g.99477589T= NCBI36
NG_011642.1:g.26924A= , LRG_471:g.26924A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.775A= MANE Select ENSP00000364270.5:p.Lys259=
ENST00000375128.4:c.775A= ENSP00000364270.4:p.Lys259=
ENST00000462523.5:c.*211A= ENSP00000433006.1:n.*211A=
ENST00000485042.1:n.287A=
NM_000380.3:c.775A= , LRG_471t1:c.775A= NP_000371.1:p.Lys259=
NR_027302.1:n.1123A=
XM_006717278.1:c.772+3A= XP_006717341.1:n.772+3A=
XM_011518988.1:c.772+3A= XP_011517290.1:n.772+3A=
NM_001354975.1:c.649A= NP_001341904.1:p.Lys217=
NR_149091.1:n.620A=
NR_149092.1:n.786A=
NR_149093.1:n.1312A=
NR_149094.1:n.1206A=
NM_000380.4:c.775A= MANE Select NP_000371.1:p.Lys259=
NM_001354975.2:c.649A= NP_001341904.1:p.Lys217=
NR_027302.2:n.1054A=
NR_149091.2:n.551A=
NR_149092.2:n.717A=
NR_149093.2:n.1243A=
NR_149094.2:n.1137A=