Canonical Allele Identifier: CA466174890
Community Standard Title: NM_000380.4(XPA):c.619C>A (p.Arg207=)
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97684977G>T , CM000671.2:g.97684977G>T GRCh38
NC_000009.11:g.100447259G>T , CM000671.1:g.100447259G>T GRCh37
NC_000009.10:g.99487080G>T NCBI36
NG_011642.1:g.17433C>A , LRG_471:g.17433C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000380.4:c.619C>A MANE Select NP_000371.1:p.Arg207=
ENST00000375128.5:c.619C>A MANE Select ENSP00000364270.5:p.Arg207=
NM_000380.3:c.619C>A , LRG_471t1:c.619C>A NP_000371.1:p.Arg207=
NM_001354975.1:c.493C>A NP_001341904.1:p.Arg165=
NM_001354975.2:c.493C>A NP_001341904.1:p.Arg165=
NR_027302.1:n.736C>A
NR_027302.2:n.667C>A
NR_149091.1:n.464C>A
NR_149091.2:n.395C>A
NR_149092.1:n.630C>A
NR_149092.2:n.561C>A
NR_149093.1:n.736C>A
NR_149093.2:n.667C>A
NR_149094.1:n.630C>A
NR_149094.2:n.561C>A
ENST00000375128.4:c.619C>A ENSP00000364270.4:p.Arg207=
ENST00000462523.5:c.619C>A ENSP00000433006.1:p.Arg207=
ENST00000496104.1:n.413C>A
XM_006717278.1:c.619C>A XP_006717341.1:p.Arg207=
XM_011518988.1:c.619C>A XP_011517290.1:p.Arg207=
XR_929839.1:n.730C>A