Canonical Allele Identifier: CA2690901729

Gene: XPA

Linked Data

• gnomAD v4: 9-97675698-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675698T>G , CM000671.2:g.97675698T>G	GRCh38
NC_000009.11:g.100437980T>G , CM000671.1:g.100437980T>G	GRCh37
NC_000009.10:g.99477801T>G	NCBI36
NG_011642.1:g.26712A>C , LRG_471:g.26712A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-111A>C MANE Select	ENSP00000364270.5:n.674-111A>C
ENST00000375128.4:c.674-111A>C	ENSP00000364270.4:n.674-111A>C
ENST00000462523.5:c.*110-111A>C	ENSP00000433006.1:n.*110-111A>C
ENST00000485042.1:n.185+73A>C
NM_000380.3:c.674-111A>C , LRG_471t1:c.674-111A>C	NP_000371.1:n.674-111A>C
NR_027302.1:n.1022-111A>C
XM_006717278.1:c.674-111A>C	XP_006717341.1:n.674-111A>C
XM_011518988.1:c.674-111A>C	XP_011517290.1:n.674-111A>C
XR_929839.1:n.1204+73A>C
NM_001354975.1:c.548-111A>C	NP_001341904.1:n.548-111A>C
NR_149091.1:n.519-111A>C
NR_149092.1:n.685-111A>C
NR_149093.1:n.1210+73A>C
NR_149094.1:n.1104+73A>C
NM_000380.4:c.674-111A>C MANE Select	NP_000371.1:n.674-111A>C
NM_001354975.2:c.548-111A>C	NP_001341904.1:n.548-111A>C
NR_027302.2:n.953-111A>C
NR_149091.2:n.450-111A>C
NR_149092.2:n.616-111A>C
NR_149093.2:n.1141+73A>C
NR_149094.2:n.1035+73A>C