Canonical Allele Identifier: CA1866632272
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675514T= , CM000671.2:g.97675514T= GRCh38
NC_000009.11:g.100437796T= , CM000671.1:g.100437796T= GRCh37
NC_000009.10:g.99477617T= NCBI36
NG_011642.1:g.26896A= , LRG_471:g.26896A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.747A= MANE Select ENSP00000364270.5:p.Glu249=
ENST00000375128.4:c.747A= ENSP00000364270.4:p.Glu249=
ENST00000462523.5:c.*183A= ENSP00000433006.1:n.*183A=
ENST00000485042.1:n.259A=
NM_000380.3:c.747A= , LRG_471t1:c.747A= NP_000371.1:p.Glu249=
NR_027302.1:n.1095A=
XM_006717278.1:c.747A= XP_006717341.1:p.Glu249=
XM_011518988.1:c.747A= XP_011517290.1:p.Glu249=
XR_929839.1:n.1278A=
NM_001354975.1:c.621A= NP_001341904.1:p.Glu207=
NR_149091.1:n.592A=
NR_149092.1:n.758A=
NR_149093.1:n.1284A=
NR_149094.1:n.1178A=
NM_000380.4:c.747A= MANE Select NP_000371.1:p.Glu249=
NM_001354975.2:c.621A= NP_001341904.1:p.Glu207=
NR_027302.2:n.1026A=
NR_149091.2:n.523A=
NR_149092.2:n.689A=
NR_149093.2:n.1215A=
NR_149094.2:n.1109A=