Canonical Allele Identifier: CA5148691
Gene: XPA HGNC NCBI

Linked Data

ClinVar Variation Id: 364088
dbSNP Id: rs144725456
gnomAD v3: 9-97675530-T-C
gnomAD v4: 9-97675530-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675530T>C , CM000671.2:g.97675530T>C GRCh38
NC_000009.11:g.100437812T>C , CM000671.1:g.100437812T>C GRCh37
NC_000009.10:g.99477633T>C NCBI36
NG_011642.1:g.26880A>G , LRG_471:g.26880A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.731A>G MANE Select ENSP00000364270.5:p.His244Arg
ENST00000375128.4:c.731A>G ENSP00000364270.4:p.His244Arg
ENST00000462523.5:c.*167A>G ENSP00000433006.1:n.*167A>G
ENST00000485042.1:n.243A>G
NM_000380.3:c.731A>G , LRG_471t1:c.731A>G NP_000371.1:p.His244Arg
NR_027302.1:n.1079A>G
XM_006717278.1:c.731A>G XP_006717341.1:p.His244Arg
XM_011518988.1:c.731A>G XP_011517290.1:p.His244Arg
XR_929839.1:n.1262A>G
NM_001354975.1:c.605A>G NP_001341904.1:p.His202Arg
NR_149091.1:n.576A>G
NR_149092.1:n.742A>G
NR_149093.1:n.1268A>G
NR_149094.1:n.1162A>G
NM_000380.4:c.731A>G MANE Select NP_000371.1:p.His244Arg
NM_001354975.2:c.605A>G NP_001341904.1:p.His202Arg
NR_027302.2:n.1010A>G
NR_149091.2:n.507A>G
NR_149092.2:n.673A>G
NR_149093.2:n.1199A>G
NR_149094.2:n.1093A>G