Canonical Allele Identifier: CA2690901698

Gene: XPA

Linked Data

• ClinVar Variation Id: 2823179
• ClinVar RCV Id: RCV003714448
• gnomAD v4: 9-97675601-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675601T>G , CM000671.2:g.97675601T>G	GRCh38
NC_000009.11:g.100437883T>G , CM000671.1:g.100437883T>G	GRCh37
NC_000009.10:g.99477704T>G	NCBI36
NG_011642.1:g.26809A>C , LRG_471:g.26809A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-14A>C MANE Select	ENSP00000364270.5:n.674-14A>C
ENST00000375128.4:c.674-14A>C	ENSP00000364270.4:n.674-14A>C
ENST00000462523.5:c.*110-14A>C	ENSP00000433006.1:n.*110-14A>C
ENST00000485042.1:n.186-14A>C
NM_000380.3:c.674-14A>C , LRG_471t1:c.674-14A>C	NP_000371.1:n.674-14A>C
NR_027302.1:n.1022-14A>C
XM_006717278.1:c.674-14A>C	XP_006717341.1:n.674-14A>C
XM_011518988.1:c.674-14A>C	XP_011517290.1:n.674-14A>C
XR_929839.1:n.1205-14A>C
NM_001354975.1:c.548-14A>C	NP_001341904.1:n.548-14A>C
NR_149091.1:n.519-14A>C
NR_149092.1:n.685-14A>C
NR_149093.1:n.1211-14A>C
NR_149094.1:n.1105-14A>C
NM_000380.4:c.674-14A>C MANE Select	NP_000371.1:n.674-14A>C
NM_001354975.2:c.548-14A>C	NP_001341904.1:n.548-14A>C
NR_027302.2:n.953-14A>C
NR_149091.2:n.450-14A>C
NR_149092.2:n.616-14A>C
NR_149093.2:n.1142-14A>C
NR_149094.2:n.1036-14A>C