Canonical Allele Identifier: CA1866632249
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675479C= , CM000671.2:g.97675479C= GRCh38
NC_000009.11:g.100437761C= , CM000671.1:g.100437761C= GRCh37
NC_000009.10:g.99477582C= NCBI36
NG_011642.1:g.26931G= , LRG_471:g.26931G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.782G= MANE Select ENSP00000364270.5:p.Cys261=
ENST00000375128.4:c.782G= ENSP00000364270.4:p.Cys261=
ENST00000462523.5:c.*218G= ENSP00000433006.1:n.*218G=
ENST00000485042.1:n.294G=
NM_000380.3:c.782G= , LRG_471t1:c.782G= NP_000371.1:p.Cys261=
NR_027302.1:n.1130G=
XM_006717278.1:c.772+10G= XP_006717341.1:n.772+10G=
XM_011518988.1:c.772+10G= XP_011517290.1:n.772+10G=
NM_001354975.1:c.656G= NP_001341904.1:p.Cys219=
NR_149091.1:n.627G=
NR_149092.1:n.793G=
NR_149093.1:n.1319G=
NR_149094.1:n.1213G=
NM_000380.4:c.782G= MANE Select NP_000371.1:p.Cys261=
NM_001354975.2:c.656G= NP_001341904.1:p.Cys219=
NR_027302.2:n.1061G=
NR_149091.2:n.558G=
NR_149092.2:n.724G=
NR_149093.2:n.1250G=
NR_149094.2:n.1144G=