Canonical Allele Identifier: CA1866632278
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675522C= , CM000671.2:g.97675522C= GRCh38
NC_000009.11:g.100437804C= , CM000671.1:g.100437804C= GRCh37
NC_000009.10:g.99477625C= NCBI36
NG_011642.1:g.26888G= , LRG_471:g.26888G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.739G= MANE Select ENSP00000364270.5:p.Gly247=
ENST00000375128.4:c.739G= ENSP00000364270.4:p.Gly247=
ENST00000462523.5:c.*175G= ENSP00000433006.1:n.*175G=
ENST00000485042.1:n.251G=
NM_000380.3:c.739G= , LRG_471t1:c.739G= NP_000371.1:p.Gly247=
NR_027302.1:n.1087G=
XM_006717278.1:c.739G= XP_006717341.1:p.Gly247=
XM_011518988.1:c.739G= XP_011517290.1:p.Gly247=
XR_929839.1:n.1270G=
NM_001354975.1:c.613G= NP_001341904.1:p.Gly205=
NR_149091.1:n.584G=
NR_149092.1:n.750G=
NR_149093.1:n.1276G=
NR_149094.1:n.1170G=
NM_000380.4:c.739G= MANE Select NP_000371.1:p.Gly247=
NM_001354975.2:c.613G= NP_001341904.1:p.Gly205=
NR_027302.2:n.1018G=
NR_149091.2:n.515G=
NR_149092.2:n.681G=
NR_149093.2:n.1207G=
NR_149094.2:n.1101G=