Canonical Allele Identifier: CA1866632271
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675512T= , CM000671.2:g.97675512T= GRCh38
NC_000009.11:g.100437794T= , CM000671.1:g.100437794T= GRCh37
NC_000009.10:g.99477615T= NCBI36
NG_011642.1:g.26898A= , LRG_471:g.26898A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.749A= MANE Select ENSP00000364270.5:p.Glu250=
ENST00000375128.4:c.749A= ENSP00000364270.4:p.Glu250=
ENST00000462523.5:c.*185A= ENSP00000433006.1:n.*185A=
ENST00000485042.1:n.261A=
NM_000380.3:c.749A= , LRG_471t1:c.749A= NP_000371.1:p.Glu250=
NR_027302.1:n.1097A=
XM_006717278.1:c.749A= XP_006717341.1:p.Glu250=
XM_011518988.1:c.749A= XP_011517290.1:p.Glu250=
XR_929839.1:n.1280A=
NM_001354975.1:c.623A= NP_001341904.1:p.Glu208=
NR_149091.1:n.594A=
NR_149092.1:n.760A=
NR_149093.1:n.1286A=
NR_149094.1:n.1180A=
NM_000380.4:c.749A= MANE Select NP_000371.1:p.Glu250=
NM_001354975.2:c.623A= NP_001341904.1:p.Glu208=
NR_027302.2:n.1028A=
NR_149091.2:n.525A=
NR_149092.2:n.691A=
NR_149093.2:n.1217A=
NR_149094.2:n.1111A=