Canonical Allele Identifier: CA1866632268
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675505T= , CM000671.2:g.97675505T= GRCh38
NC_000009.11:g.100437787T= , CM000671.1:g.100437787T= GRCh37
NC_000009.10:g.99477608T= NCBI36
NG_011642.1:g.26905A= , LRG_471:g.26905A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.756A= MANE Select ENSP00000364270.5:p.Leu252=
ENST00000375128.4:c.756A= ENSP00000364270.4:p.Leu252=
ENST00000462523.5:c.*192A= ENSP00000433006.1:n.*192A=
ENST00000485042.1:n.268A=
NM_000380.3:c.756A= , LRG_471t1:c.756A= NP_000371.1:p.Leu252=
NR_027302.1:n.1104A=
XM_006717278.1:c.756A= XP_006717341.1:p.Leu252=
XM_011518988.1:c.756A= XP_011517290.1:p.Leu252=
XR_929839.1:n.1287A=
NM_001354975.1:c.630A= NP_001341904.1:p.Leu210=
NR_149091.1:n.601A=
NR_149092.1:n.767A=
NR_149093.1:n.1293A=
NR_149094.1:n.1187A=
NM_000380.4:c.756A= MANE Select NP_000371.1:p.Leu252=
NM_001354975.2:c.630A= NP_001341904.1:p.Leu210=
NR_027302.2:n.1035A=
NR_149091.2:n.532A=
NR_149092.2:n.698A=
NR_149093.2:n.1224A=
NR_149094.2:n.1118A=