Canonical Allele Identifier: CA1866632239
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675451A= , CM000671.2:g.97675451A= GRCh38
NC_000009.11:g.100437733A= , CM000671.1:g.100437733A= GRCh37
NC_000009.10:g.99477554A= NCBI36
NG_011642.1:g.26959T= , LRG_471:g.26959T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.810T= MANE Select ENSP00000364270.5:p.Tyr270=
ENST00000375128.4:c.810T= ENSP00000364270.4:p.Tyr270=
ENST00000462523.5:c.*246T= ENSP00000433006.1:n.*246T=
ENST00000485042.1:n.322T=
NM_000380.3:c.810T= , LRG_471t1:c.810T= NP_000371.1:p.Tyr270=
NR_027302.1:n.1158T=
XM_006717278.1:c.772+38T= XP_006717341.1:n.772+38T=
XM_011518988.1:c.772+38T= XP_011517290.1:n.772+38T=
NM_001354975.1:c.684T= NP_001341904.1:p.Tyr228=
NR_149091.1:n.655T=
NR_149092.1:n.821T=
NR_149093.1:n.1347T=
NR_149094.1:n.1241T=
NM_000380.4:c.810T= MANE Select NP_000371.1:p.Tyr270=
NM_001354975.2:c.684T= NP_001341904.1:p.Tyr228=
NR_027302.2:n.1089T=
NR_149091.2:n.586T=
NR_149092.2:n.752T=
NR_149093.2:n.1278T=
NR_149094.2:n.1172T=