Canonical Allele Identifier: CA5148683

Gene: XPA

Linked Data

• ClinVar Variation Id: 1560032
• ClinVar RCV Id: RCV002209051
• dbSNP Id: rs563633374
• ExAC: 9:100437781 A / G
• gnomAD v2: 9-100437781-A-G
• gnomAD v3: 9-97675499-A-G
• gnomAD v4: 9-97675499-A-G
• MyVariant Identifiers: chr9:g.100437781A>G (hg19) ; chr9:g.100437781_100437784delinsGTCT (hg19) ; chr9:g.97675499A>G (hg38) ; chr9:g.97675499_97675502delinsGTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675499A>G , CM000671.2:g.97675499A>G	GRCh38
NC_000009.11:g.100437781A>G , CM000671.1:g.100437781A>G	GRCh37
NC_000009.10:g.99477602A>G	NCBI36
NG_011642.1:g.26911T>C , LRG_471:g.26911T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.762T>C MANE Select	ENSP00000364270.5:p.Asp254=
ENST00000375128.4:c.762T>C	ENSP00000364270.4:p.Asp254=
ENST00000462523.5:c.*198T>C	ENSP00000433006.1:n.*198T>C
ENST00000485042.1:n.274T>C
NM_000380.3:c.762T>C , LRG_471t1:c.762T>C	NP_000371.1:p.Asp254=
NR_027302.1:n.1110T>C
XM_006717278.1:c.762T>C	XP_006717341.1:p.Asp254=
XM_011518988.1:c.762T>C	XP_011517290.1:p.Asp254=
XR_929839.1:n.1293T>C
NM_001354975.1:c.636T>C	NP_001341904.1:p.Asp212=
NR_149091.1:n.607T>C
NR_149092.1:n.773T>C
NR_149093.1:n.1299T>C
NR_149094.1:n.1193T>C
NM_000380.4:c.762T>C MANE Select	NP_000371.1:p.Asp254=
NM_001354975.2:c.636T>C	NP_001341904.1:p.Asp212=
NR_027302.2:n.1041T>C
NR_149091.2:n.538T>C
NR_149092.2:n.704T>C
NR_149093.2:n.1230T>C
NR_149094.2:n.1124T>C