Canonical Allele Identifier: CA466174831
Gene: XPA HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.100437834T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675552T>G , CM000671.2:g.97675552T>G GRCh38
NC_000009.11:g.100437834T>G , CM000671.1:g.100437834T>G GRCh37
NC_000009.10:g.99477655T>G NCBI36
NG_011642.1:g.26858A>C , LRG_471:g.26858A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.709A>C MANE Select ENSP00000364270.5:p.Arg237=
ENST00000375128.4:c.709A>C ENSP00000364270.4:p.Arg237=
ENST00000462523.5:c.*145A>C ENSP00000433006.1:n.*145A>C
ENST00000485042.1:n.221A>C
NM_000380.3:c.709A>C , LRG_471t1:c.709A>C NP_000371.1:p.Arg237=
NR_027302.1:n.1057A>C
XM_006717278.1:c.709A>C XP_006717341.1:p.Arg237=
XM_011518988.1:c.709A>C XP_011517290.1:p.Arg237=
XR_929839.1:n.1240A>C
NM_001354975.1:c.583A>C NP_001341904.1:p.Arg195=
NR_149091.1:n.554A>C
NR_149092.1:n.720A>C
NR_149093.1:n.1246A>C
NR_149094.1:n.1140A>C
NM_000380.4:c.709A>C MANE Select NP_000371.1:p.Arg237=
NM_001354975.2:c.583A>C NP_001341904.1:p.Arg195=
NR_027302.2:n.988A>C
NR_149091.2:n.485A>C
NR_149092.2:n.651A>C
NR_149093.2:n.1177A>C
NR_149094.2:n.1071A>C