Canonical Allele Identifier: CA374185419

Gene: XPA

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.743C>A MANE Select	ENSP00000364270.5:p.Pro248Gln
ENST00000375128.4:c.743C>A	ENSP00000364270.4:p.Pro248Gln
ENST00000462523.5:c.*179C>A	ENSP00000433006.1:n.*179C>A
ENST00000485042.1:n.255C>A
NM_000380.3:c.743C>A , LRG_471t1:c.743C>A	NP_000371.1:p.Pro248Gln
NR_027302.1:n.1091C>A
XM_006717278.1:c.743C>A	XP_006717341.1:p.Pro248Gln
XM_011518988.1:c.743C>A	XP_011517290.1:p.Pro248Gln
XR_929839.1:n.1274C>A
NM_001354975.1:c.617C>A	NP_001341904.1:p.Pro206Gln
NR_149091.1:n.588C>A
NR_149092.1:n.754C>A
NR_149093.1:n.1280C>A
NR_149094.1:n.1174C>A
NM_000380.4:c.743C>A MANE Select	NP_000371.1:p.Pro248Gln
NM_001354975.2:c.617C>A	NP_001341904.1:p.Pro206Gln
NR_027302.2:n.1022C>A
NR_149091.2:n.519C>A
NR_149092.2:n.685C>A
NR_149093.2:n.1211C>A
NR_149094.2:n.1105C>A