Canonical Allele Identifier: CA374185535

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437851C>T (hg19) ; chr9:g.97675569C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675569C>T , CM000671.2:g.97675569C>T	GRCh38
NC_000009.11:g.100437851C>T , CM000671.1:g.100437851C>T	GRCh37
NC_000009.10:g.99477672C>T	NCBI36
NG_011642.1:g.26841G>A , LRG_471:g.26841G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.692G>A MANE Select	ENSP00000364270.5:p.Arg231Lys
ENST00000375128.4:c.692G>A	ENSP00000364270.4:p.Arg231Lys
ENST00000462523.5:c.*128G>A	ENSP00000433006.1:n.*128G>A
ENST00000485042.1:n.204G>A
NM_000380.3:c.692G>A , LRG_471t1:c.692G>A	NP_000371.1:p.Arg231Lys
NR_027302.1:n.1040G>A
XM_006717278.1:c.692G>A	XP_006717341.1:p.Arg231Lys
XM_011518988.1:c.692G>A	XP_011517290.1:p.Arg231Lys
XR_929839.1:n.1223G>A
NM_001354975.1:c.566G>A	NP_001341904.1:p.Arg189Lys
NR_149091.1:n.537G>A
NR_149092.1:n.703G>A
NR_149093.1:n.1229G>A
NR_149094.1:n.1123G>A
NM_000380.4:c.692G>A MANE Select	NP_000371.1:p.Arg231Lys
NM_001354975.2:c.566G>A	NP_001341904.1:p.Arg189Lys
NR_027302.2:n.971G>A
NR_149091.2:n.468G>A
NR_149092.2:n.634G>A
NR_149093.2:n.1160G>A
NR_149094.2:n.1054G>A