Canonical Allele Identifier: CA374187933
Community Standard Title: NM_000380.4(XPA):c.283G>A (p.Gly95Arg)
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97693649C>T , CM000671.2:g.97693649C>T GRCh38
NC_000009.11:g.100455931C>T , CM000671.1:g.100455931C>T GRCh37
NC_000009.10:g.99495752C>T NCBI36
NG_011642.1:g.8761G>A , LRG_471:g.8761G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000380.4:c.283G>A MANE Select NP_000371.1:p.Gly95Arg
ENST00000375128.5:c.283G>A MANE Select ENSP00000364270.5:p.Gly95Arg
NM_000380.3:c.283G>A , LRG_471t1:c.283G>A NP_000371.1:p.Gly95Arg
NM_001354975.1:c.157G>A NP_001341904.1:p.Gly53Arg
NM_001354975.2:c.157G>A NP_001341904.1:p.Gly53Arg
NR_027302.1:n.400G>A
NR_027302.2:n.331G>A
NR_149091.1:n.400G>A
NR_149091.2:n.331G>A
NR_149092.1:n.400G>A
NR_149092.2:n.331G>A
NR_149093.1:n.400G>A
NR_149093.2:n.331G>A
NR_149094.1:n.400G>A
NR_149094.2:n.331G>A
ENST00000375128.4:c.283G>A ENSP00000364270.4:p.Gly95Arg
ENST00000462523.5:c.283G>A ENSP00000433006.1:p.Gly95Arg
ENST00000496104.1:n.183G>A
XM_006717278.1:c.283G>A XP_006717341.1:p.Gly95Arg
XM_011518988.1:c.283G>A XP_011517290.1:p.Gly95Arg
XR_929839.1:n.394G>A