Canonical Allele Identifier: CA2690901722
Gene: XPA HGNC NCBI

Linked Data

gnomAD v4: 9-97675682-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675682G>T , CM000671.2:g.97675682G>T GRCh38
NC_000009.11:g.100437964G>T , CM000671.1:g.100437964G>T GRCh37
NC_000009.10:g.99477785G>T NCBI36
NG_011642.1:g.26728C>A , LRG_471:g.26728C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.674-95C>A MANE Select ENSP00000364270.5:n.674-95C>A
ENST00000375128.4:c.674-95C>A ENSP00000364270.4:n.674-95C>A
ENST00000462523.5:c.*110-95C>A ENSP00000433006.1:n.*110-95C>A
ENST00000485042.1:n.185+89C>A
NM_000380.3:c.674-95C>A , LRG_471t1:c.674-95C>A NP_000371.1:n.674-95C>A
NR_027302.1:n.1022-95C>A
XM_006717278.1:c.674-95C>A XP_006717341.1:n.674-95C>A
XM_011518988.1:c.674-95C>A XP_011517290.1:n.674-95C>A
XR_929839.1:n.1204+89C>A
NM_001354975.1:c.548-95C>A NP_001341904.1:n.548-95C>A
NR_149091.1:n.519-95C>A
NR_149092.1:n.685-95C>A
NR_149093.1:n.1210+89C>A
NR_149094.1:n.1104+89C>A
NM_000380.4:c.674-95C>A MANE Select NP_000371.1:n.674-95C>A
NM_001354975.2:c.548-95C>A NP_001341904.1:n.548-95C>A
NR_027302.2:n.953-95C>A
NR_149091.2:n.450-95C>A
NR_149092.2:n.616-95C>A
NR_149093.2:n.1141+89C>A
NR_149094.2:n.1035+89C>A