Canonical Allele Identifier: CA1866632276
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675518G= , CM000671.2:g.97675518G= GRCh38
NC_000009.11:g.100437800G= , CM000671.1:g.100437800G= GRCh37
NC_000009.10:g.99477621G= NCBI36
NG_011642.1:g.26892C= , LRG_471:g.26892C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.743C= MANE Select ENSP00000364270.5:p.Pro248=
ENST00000375128.4:c.743C= ENSP00000364270.4:p.Pro248=
ENST00000462523.5:c.*179C= ENSP00000433006.1:n.*179C=
ENST00000485042.1:n.255C=
NM_000380.3:c.743C= , LRG_471t1:c.743C= NP_000371.1:p.Pro248=
NR_027302.1:n.1091C=
XM_006717278.1:c.743C= XP_006717341.1:p.Pro248=
XM_011518988.1:c.743C= XP_011517290.1:p.Pro248=
XR_929839.1:n.1274C=
NM_001354975.1:c.617C= NP_001341904.1:p.Pro206=
NR_149091.1:n.588C=
NR_149092.1:n.754C=
NR_149093.1:n.1280C=
NR_149094.1:n.1174C=
NM_000380.4:c.743C= MANE Select NP_000371.1:p.Pro248=
NM_001354975.2:c.617C= NP_001341904.1:p.Pro206=
NR_027302.2:n.1022C=
NR_149091.2:n.519C=
NR_149092.2:n.685C=
NR_149093.2:n.1211C=
NR_149094.2:n.1105C=