Canonical Allele Identifier: CA589323356

Gene: XPA

Linked Data

• dbSNP Id: rs1484235996
• gnomAD v2: 9-100438092-A-G
• gnomAD v3: 9-97675810-A-G
• gnomAD v4: 9-97675810-A-G
• MyVariant Identifiers: chr9:g.100438092A>G (hg19) ; chr9:g.97675810A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675810A>G , CM000671.2:g.97675810A>G	GRCh38
NC_000009.11:g.100438092A>G , CM000671.1:g.100438092A>G	GRCh37
NC_000009.10:g.99477913A>G	NCBI36
NG_011642.1:g.26600T>C , LRG_471:g.26600T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-223T>C MANE Select	ENSP00000364270.5:n.674-223T>C
ENST00000375128.4:c.674-223T>C	ENSP00000364270.4:n.674-223T>C
ENST00000462523.5:c.*110-223T>C	ENSP00000433006.1:n.*110-223T>C
ENST00000485042.1:n.146T>C
NM_000380.3:c.674-223T>C , LRG_471t1:c.674-223T>C	NP_000371.1:n.674-223T>C
NR_027302.1:n.1022-223T>C
XM_006717278.1:c.674-223T>C	XP_006717341.1:n.674-223T>C
XM_011518988.1:c.674-223T>C	XP_011517290.1:n.674-223T>C
XR_929839.1:n.1165T>C
NM_001354975.1:c.548-223T>C	NP_001341904.1:n.548-223T>C
NR_149091.1:n.519-223T>C
NR_149092.1:n.685-223T>C
NR_149093.1:n.1171T>C
NR_149094.1:n.1065T>C
NM_000380.4:c.674-223T>C MANE Select	NP_000371.1:n.674-223T>C
NM_001354975.2:c.548-223T>C	NP_001341904.1:n.548-223T>C
NR_027302.2:n.953-223T>C
NR_149091.2:n.450-223T>C
NR_149092.2:n.616-223T>C
NR_149093.2:n.1102T>C
NR_149094.2:n.996T>C