Canonical Allele Identifier: CA1866632382

Gene: XPA

Linked Data

• dbSNP Id: rs919014517
• gnomAD v4: 9-97675676-A-ATG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675686_97675687dup , CM000671.2:g.97675686_97675687dup	GRCh38
NC_000009.11:g.100437968_100437969dup , CM000671.1:g.100437968_100437969dup	GRCh37
NC_000009.10:g.99477789_99477790dup	NCBI36
NG_011642.1:g.26732_26733dup , LRG_471:g.26732_26733dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-91_674-90dup MANE Select	ENSP00000364270.5:n.674-91_674-90dup
ENST00000375128.4:c.674-91_674-90dup	ENSP00000364270.4:n.674-91_674-90dup
ENST00000462523.5:c.*110-91_*110-90dup	ENSP00000433006.1:n.*110-91_*110-90dup
ENST00000485042.1:n.186-91_186-90dup
NM_000380.3:c.674-91_674-90dup , LRG_471t1:c.674-91_674-90dup	NP_000371.1:n.674-91_674-90dup
NR_027302.1:n.1022-91_1022-90dup
XM_006717278.1:c.674-91_674-90dup	XP_006717341.1:n.674-91_674-90dup
XM_011518988.1:c.674-91_674-90dup	XP_011517290.1:n.674-91_674-90dup
XR_929839.1:n.1205-91_1205-90dup
NM_001354975.1:c.548-91_548-90dup	NP_001341904.1:n.548-91_548-90dup
NR_149091.1:n.519-91_519-90dup
NR_149092.1:n.685-91_685-90dup
NR_149093.1:n.1211-91_1211-90dup
NR_149094.1:n.1105-91_1105-90dup
NM_000380.4:c.674-91_674-90dup MANE Select	NP_000371.1:n.674-91_674-90dup
NM_001354975.2:c.548-91_548-90dup	NP_001341904.1:n.548-91_548-90dup
NR_027302.2:n.953-91_953-90dup
NR_149091.2:n.450-91_450-90dup
NR_149092.2:n.616-91_616-90dup
NR_149093.2:n.1142-91_1142-90dup
NR_149094.2:n.1036-91_1036-90dup