Canonical Allele Identifier: CA1866632290
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675544C= , CM000671.2:g.97675544C= GRCh38
NC_000009.11:g.100437826C= , CM000671.1:g.100437826C= GRCh37
NC_000009.10:g.99477647C= NCBI36
NG_011642.1:g.26866G= , LRG_471:g.26866G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.717G= MANE Select ENSP00000364270.5:p.Thr239=
ENST00000375128.4:c.717G= ENSP00000364270.4:p.Thr239=
ENST00000462523.5:c.*153G= ENSP00000433006.1:n.*153G=
ENST00000485042.1:n.229G=
NM_000380.3:c.717G= , LRG_471t1:c.717G= NP_000371.1:p.Thr239=
NR_027302.1:n.1065G=
XM_006717278.1:c.717G= XP_006717341.1:p.Thr239=
XM_011518988.1:c.717G= XP_011517290.1:p.Thr239=
XR_929839.1:n.1248G=
NM_001354975.1:c.591G= NP_001341904.1:p.Thr197=
NR_149091.1:n.562G=
NR_149092.1:n.728G=
NR_149093.1:n.1254G=
NR_149094.1:n.1148G=
NM_000380.4:c.717G= MANE Select NP_000371.1:p.Thr239=
NM_001354975.2:c.591G= NP_001341904.1:p.Thr197=
NR_027302.2:n.996G=
NR_149091.2:n.493G=
NR_149092.2:n.659G=
NR_149093.2:n.1185G=
NR_149094.2:n.1079G=