Canonical Allele Identifier: CA466174842
Gene: XPA HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.100437856T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675574T>G , CM000671.2:g.97675574T>G GRCh38
NC_000009.11:g.100437856T>G , CM000671.1:g.100437856T>G GRCh37
NC_000009.10:g.99477677T>G NCBI36
NG_011642.1:g.26836A>C , LRG_471:g.26836A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.687A>C MANE Select ENSP00000364270.5:p.Ala229=
ENST00000375128.4:c.687A>C ENSP00000364270.4:p.Ala229=
ENST00000462523.5:c.*123A>C ENSP00000433006.1:n.*123A>C
ENST00000485042.1:n.199A>C
NM_000380.3:c.687A>C , LRG_471t1:c.687A>C NP_000371.1:p.Ala229=
NR_027302.1:n.1035A>C
XM_006717278.1:c.687A>C XP_006717341.1:p.Ala229=
XM_011518988.1:c.687A>C XP_011517290.1:p.Ala229=
XR_929839.1:n.1218A>C
NM_001354975.1:c.561A>C NP_001341904.1:p.Ala187=
NR_149091.1:n.532A>C
NR_149092.1:n.698A>C
NR_149093.1:n.1224A>C
NR_149094.1:n.1118A>C
NM_000380.4:c.687A>C MANE Select NP_000371.1:p.Ala229=
NM_001354975.2:c.561A>C NP_001341904.1:p.Ala187=
NR_027302.2:n.966A>C
NR_149091.2:n.463A>C
NR_149092.2:n.629A>C
NR_149093.2:n.1155A>C
NR_149094.2:n.1049A>C