Canonical Allele Identifier: CA374185517

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437844G>T (hg19) ; chr9:g.97675562G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675562G>T , CM000671.2:g.97675562G>T	GRCh38
NC_000009.11:g.100437844G>T , CM000671.1:g.100437844G>T	GRCh37
NC_000009.10:g.99477665G>T	NCBI36
NG_011642.1:g.26848C>A , LRG_471:g.26848C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.699C>A MANE Select	ENSP00000364270.5:p.Ser233Arg
ENST00000375128.4:c.699C>A	ENSP00000364270.4:p.Ser233Arg
ENST00000462523.5:c.*135C>A	ENSP00000433006.1:n.*135C>A
ENST00000485042.1:n.211C>A
NM_000380.3:c.699C>A , LRG_471t1:c.699C>A	NP_000371.1:p.Ser233Arg
NR_027302.1:n.1047C>A
XM_006717278.1:c.699C>A	XP_006717341.1:p.Ser233Arg
XM_011518988.1:c.699C>A	XP_011517290.1:p.Ser233Arg
XR_929839.1:n.1230C>A
NM_001354975.1:c.573C>A	NP_001341904.1:p.Ser191Arg
NR_149091.1:n.544C>A
NR_149092.1:n.710C>A
NR_149093.1:n.1236C>A
NR_149094.1:n.1130C>A
NM_000380.4:c.699C>A MANE Select	NP_000371.1:p.Ser233Arg
NM_001354975.2:c.573C>A	NP_001341904.1:p.Ser191Arg
NR_027302.2:n.978C>A
NR_149091.2:n.475C>A
NR_149092.2:n.641C>A
NR_149093.2:n.1167C>A
NR_149094.2:n.1061C>A