Canonical Allele Identifier: CA196742004
Gene: XPA HGNC NCBI

Linked Data

ClinVar Variation Id: 797016
ClinVar RCV Id: RCV000980449
dbSNP Id: rs1026242684
gnomAD v3: 9-97675535-A-G
gnomAD v4: 9-97675535-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675535A>G , CM000671.2:g.97675535A>G GRCh38
NC_000009.11:g.100437817A>G , CM000671.1:g.100437817A>G GRCh37
NC_000009.10:g.99477638A>G NCBI36
NG_011642.1:g.26875T>C , LRG_471:g.26875T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.726T>C MANE Select ENSP00000364270.5:p.His242=
ENST00000375128.4:c.726T>C ENSP00000364270.4:p.His242=
ENST00000462523.5:c.*162T>C ENSP00000433006.1:n.*162T>C
ENST00000485042.1:n.238T>C
NM_000380.3:c.726T>C , LRG_471t1:c.726T>C NP_000371.1:p.His242=
NR_027302.1:n.1074T>C
XM_006717278.1:c.726T>C XP_006717341.1:p.His242=
XM_011518988.1:c.726T>C XP_011517290.1:p.His242=
XR_929839.1:n.1257T>C
NM_001354975.1:c.600T>C NP_001341904.1:p.His200=
NR_149091.1:n.571T>C
NR_149092.1:n.737T>C
NR_149093.1:n.1263T>C
NR_149094.1:n.1157T>C
NM_000380.4:c.726T>C MANE Select NP_000371.1:p.His242=
NM_001354975.2:c.600T>C NP_001341904.1:p.His200=
NR_027302.2:n.1005T>C
NR_149091.2:n.502T>C
NR_149092.2:n.668T>C
NR_149093.2:n.1194T>C
NR_149094.2:n.1088T>C