Canonical Allele Identifier: CA374185418

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437800G>C (hg19) ; chr9:g.97675518G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675518G>C , CM000671.2:g.97675518G>C	GRCh38
NC_000009.11:g.100437800G>C , CM000671.1:g.100437800G>C	GRCh37
NC_000009.10:g.99477621G>C	NCBI36
NG_011642.1:g.26892C>G , LRG_471:g.26892C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.743C>G MANE Select	ENSP00000364270.5:p.Pro248Arg
ENST00000375128.4:c.743C>G	ENSP00000364270.4:p.Pro248Arg
ENST00000462523.5:c.*179C>G	ENSP00000433006.1:n.*179C>G
ENST00000485042.1:n.255C>G
NM_000380.3:c.743C>G , LRG_471t1:c.743C>G	NP_000371.1:p.Pro248Arg
NR_027302.1:n.1091C>G
XM_006717278.1:c.743C>G	XP_006717341.1:p.Pro248Arg
XM_011518988.1:c.743C>G	XP_011517290.1:p.Pro248Arg
XR_929839.1:n.1274C>G
NM_001354975.1:c.617C>G	NP_001341904.1:p.Pro206Arg
NR_149091.1:n.588C>G
NR_149092.1:n.754C>G
NR_149093.1:n.1280C>G
NR_149094.1:n.1174C>G
NM_000380.4:c.743C>G MANE Select	NP_000371.1:p.Pro248Arg
NM_001354975.2:c.617C>G	NP_001341904.1:p.Pro206Arg
NR_027302.2:n.1022C>G
NR_149091.2:n.519C>G
NR_149092.2:n.685C>G
NR_149093.2:n.1211C>G
NR_149094.2:n.1105C>G