Canonical Allele Identifier: CA1866632305
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675578C= , CM000671.2:g.97675578C= GRCh38
NC_000009.11:g.100437860C= , CM000671.1:g.100437860C= GRCh37
NC_000009.10:g.99477681C= NCBI36
NG_011642.1:g.26832G= , LRG_471:g.26832G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.683G= MANE Select ENSP00000364270.5:p.Arg228=
ENST00000375128.4:c.683G= ENSP00000364270.4:p.Arg228=
ENST00000462523.5:c.*119G= ENSP00000433006.1:n.*119G=
ENST00000485042.1:n.195G=
NM_000380.3:c.683G= , LRG_471t1:c.683G= NP_000371.1:p.Arg228=
NR_027302.1:n.1031G=
XM_006717278.1:c.683G= XP_006717341.1:p.Arg228=
XM_011518988.1:c.683G= XP_011517290.1:p.Arg228=
XR_929839.1:n.1214G=
NM_001354975.1:c.557G= NP_001341904.1:p.Arg186=
NR_149091.1:n.528G=
NR_149092.1:n.694G=
NR_149093.1:n.1220G=
NR_149094.1:n.1114G=
NM_000380.4:c.683G= MANE Select NP_000371.1:p.Arg228=
NM_001354975.2:c.557G= NP_001341904.1:p.Arg186=
NR_027302.2:n.962G=
NR_149091.2:n.459G=
NR_149092.2:n.625G=
NR_149093.2:n.1151G=
NR_149094.2:n.1045G=