Canonical Allele Identifier: CA2690901717
Gene: XPA HGNC NCBI

Linked Data

gnomAD v4: 9-97675676-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675676A>C , CM000671.2:g.97675676A>C GRCh38
NC_000009.11:g.100437958A>C , CM000671.1:g.100437958A>C GRCh37
NC_000009.10:g.99477779A>C NCBI36
NG_011642.1:g.26734T>G , LRG_471:g.26734T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.674-89T>G MANE Select ENSP00000364270.5:n.674-89T>G
ENST00000375128.4:c.674-89T>G ENSP00000364270.4:n.674-89T>G
ENST00000462523.5:c.*110-89T>G ENSP00000433006.1:n.*110-89T>G
ENST00000485042.1:n.186-89T>G
NM_000380.3:c.674-89T>G , LRG_471t1:c.674-89T>G NP_000371.1:n.674-89T>G
NR_027302.1:n.1022-89T>G
XM_006717278.1:c.674-89T>G XP_006717341.1:n.674-89T>G
XM_011518988.1:c.674-89T>G XP_011517290.1:n.674-89T>G
XR_929839.1:n.1205-89T>G
NM_001354975.1:c.548-89T>G NP_001341904.1:n.548-89T>G
NR_149091.1:n.519-89T>G
NR_149092.1:n.685-89T>G
NR_149093.1:n.1211-89T>G
NR_149094.1:n.1105-89T>G
NM_000380.4:c.674-89T>G MANE Select NP_000371.1:n.674-89T>G
NM_001354975.2:c.548-89T>G NP_001341904.1:n.548-89T>G
NR_027302.2:n.953-89T>G
NR_149091.2:n.450-89T>G
NR_149092.2:n.616-89T>G
NR_149093.2:n.1142-89T>G
NR_149094.2:n.1036-89T>G