Canonical Allele Identifier: CA374187695

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97689545A>C , CM000671.2:g.97689545A>C	GRCh38
NC_000009.11:g.100451827A>C , CM000671.1:g.100451827A>C	GRCh37
NC_000009.10:g.99491648A>C	NCBI36
NG_011642.1:g.12865T>G , LRG_471:g.12865T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.378T>G MANE Select	NP_000371.1:p.Cys126Trp
ENST00000375128.5:c.378T>G MANE Select	ENSP00000364270.5:p.Cys126Trp
NM_000380.3:c.378T>G , LRG_471t1:c.378T>G	NP_000371.1:p.Cys126Trp
NM_001354975.1:c.252T>G	NP_001341904.1:p.Cys84Trp
NM_001354975.2:c.252T>G	NP_001341904.1:p.Cys84Trp
NR_027302.1:n.495T>G
NR_027302.2:n.426T>G
NR_149091.1:n.400+4104T>G
NR_149091.2:n.331+4104T>G
NR_149092.1:n.401-2284T>G
NR_149092.2:n.332-2284T>G
NR_149093.1:n.495T>G
NR_149093.2:n.426T>G
NR_149094.1:n.401-2284T>G
NR_149094.2:n.332-2284T>G
ENST00000375128.4:c.378T>G	ENSP00000364270.4:p.Cys126Trp
ENST00000462523.5:c.378T>G	ENSP00000433006.1:p.Cys126Trp
ENST00000496104.1:n.184-2284T>G
XM_006717278.1:c.378T>G	XP_006717341.1:p.Cys126Trp
XM_011518988.1:c.378T>G	XP_011517290.1:p.Cys126Trp
XR_929839.1:n.489T>G