Canonical Allele Identifier: CA1866632304
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675577T= , CM000671.2:g.97675577T= GRCh38
NC_000009.11:g.100437859T= , CM000671.1:g.100437859T= GRCh37
NC_000009.10:g.99477680T= NCBI36
NG_011642.1:g.26833A= , LRG_471:g.26833A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.684A= MANE Select ENSP00000364270.5:p.Arg228=
ENST00000375128.4:c.684A= ENSP00000364270.4:p.Arg228=
ENST00000462523.5:c.*120A= ENSP00000433006.1:n.*120A=
ENST00000485042.1:n.196A=
NM_000380.3:c.684A= , LRG_471t1:c.684A= NP_000371.1:p.Arg228=
NR_027302.1:n.1032A=
XM_006717278.1:c.684A= XP_006717341.1:p.Arg228=
XM_011518988.1:c.684A= XP_011517290.1:p.Arg228=
XR_929839.1:n.1215A=
NM_001354975.1:c.558A= NP_001341904.1:p.Arg186=
NR_149091.1:n.529A=
NR_149092.1:n.695A=
NR_149093.1:n.1221A=
NR_149094.1:n.1115A=
NM_000380.4:c.684A= MANE Select NP_000371.1:p.Arg228=
NM_001354975.2:c.558A= NP_001341904.1:p.Arg186=
NR_027302.2:n.963A=
NR_149091.2:n.460A=
NR_149092.2:n.626A=
NR_149093.2:n.1152A=
NR_149094.2:n.1046A=