Canonical Allele Identifier: CA915796171

Gene: XPA

Linked Data

• gnomAD v2: 9-100438058-T-C
• gnomAD v4: 9-97675776-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675776T>C , CM000671.2:g.97675776T>C	GRCh38
NC_000009.11:g.100438058T>C , CM000671.1:g.100438058T>C	GRCh37
NC_000009.10:g.99477879T>C	NCBI36
NG_011642.1:g.26634A>G , LRG_471:g.26634A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-189A>G MANE Select	ENSP00000364270.5:n.674-189A>G
ENST00000375128.4:c.674-189A>G	ENSP00000364270.4:n.674-189A>G
ENST00000462523.5:c.*110-189A>G	ENSP00000433006.1:n.*110-189A>G
ENST00000485042.1:n.180A>G
NM_000380.3:c.674-189A>G , LRG_471t1:c.674-189A>G	NP_000371.1:n.674-189A>G
NR_027302.1:n.1022-189A>G
XM_006717278.1:c.674-189A>G	XP_006717341.1:n.674-189A>G
XM_011518988.1:c.674-189A>G	XP_011517290.1:n.674-189A>G
XR_929839.1:n.1199A>G
NM_001354975.1:c.548-189A>G	NP_001341904.1:n.548-189A>G
NR_149091.1:n.519-189A>G
NR_149092.1:n.685-189A>G
NR_149093.1:n.1205A>G
NR_149094.1:n.1099A>G
NM_000380.4:c.674-189A>G MANE Select	NP_000371.1:n.674-189A>G
NM_001354975.2:c.548-189A>G	NP_001341904.1:n.548-189A>G
NR_027302.2:n.953-189A>G
NR_149091.2:n.450-189A>G
NR_149092.2:n.616-189A>G
NR_149093.2:n.1136A>G
NR_149094.2:n.1030A>G