Canonical Allele Identifier: CA196750771
Gene: XPA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97686335A>G , CM000671.2:g.97686335A>G GRCh38
NC_000009.11:g.100448617A>G , CM000671.1:g.100448617A>G GRCh37
NC_000009.10:g.99488438A>G NCBI36
NG_011642.1:g.16075T>C , LRG_471:g.16075T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.555+761T>C MANE Select ENSP00000364270.5:n.555+761T>C
ENST00000375128.4:c.555+761T>C ENSP00000364270.4:n.555+761T>C
ENST00000462523.5:c.555+761T>C ENSP00000433006.1:n.555+761T>C
ENST00000496104.1:n.349+761T>C
NM_000380.3:c.555+761T>C , LRG_471t1:c.555+761T>C NP_000371.1:n.555+761T>C
NR_027302.1:n.672+761T>C
XM_006717278.1:c.555+761T>C XP_006717341.1:n.555+761T>C
XM_011518988.1:c.555+761T>C XP_011517290.1:n.555+761T>C
XR_929839.1:n.666+761T>C
NM_001354975.1:c.429+761T>C NP_001341904.1:n.429+761T>C
NR_149091.1:n.401-1295T>C
NR_149092.1:n.566+761T>C
NR_149093.1:n.672+761T>C
NR_149094.1:n.566+761T>C
NM_000380.4:c.555+761T>C MANE Select NP_000371.1:n.555+761T>C
NM_001354975.2:c.429+761T>C NP_001341904.1:n.429+761T>C
NR_027302.2:n.603+761T>C
NR_149091.2:n.332-1295T>C
NR_149092.2:n.497+761T>C
NR_149093.2:n.603+761T>C
NR_149094.2:n.497+761T>C
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