Canonical Allele Identifier: CA868996361

Gene: XPA

Linked Data

• dbSNP Id: rs1234089870
• gnomAD v4: 9-97675804-T-C
• MyVariant Identifiers: chr9:g.100438086T>C (hg19) ; chr9:g.97675804T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675804T>C , CM000671.2:g.97675804T>C	GRCh38
NC_000009.11:g.100438086T>C , CM000671.1:g.100438086T>C	GRCh37
NC_000009.10:g.99477907T>C	NCBI36
NG_011642.1:g.26606A>G , LRG_471:g.26606A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-217A>G MANE Select	ENSP00000364270.5:n.674-217A>G
ENST00000375128.4:c.674-217A>G	ENSP00000364270.4:n.674-217A>G
ENST00000462523.5:c.*110-217A>G	ENSP00000433006.1:n.*110-217A>G
ENST00000485042.1:n.152A>G
NM_000380.3:c.674-217A>G , LRG_471t1:c.674-217A>G	NP_000371.1:n.674-217A>G
NR_027302.1:n.1022-217A>G
XM_006717278.1:c.674-217A>G	XP_006717341.1:n.674-217A>G
XM_011518988.1:c.674-217A>G	XP_011517290.1:n.674-217A>G
XR_929839.1:n.1171A>G
NM_001354975.1:c.548-217A>G	NP_001341904.1:n.548-217A>G
NR_149091.1:n.519-217A>G
NR_149092.1:n.685-217A>G
NR_149093.1:n.1177A>G
NR_149094.1:n.1071A>G
NM_000380.4:c.674-217A>G MANE Select	NP_000371.1:n.674-217A>G
NM_001354975.2:c.548-217A>G	NP_001341904.1:n.548-217A>G
NR_027302.2:n.953-217A>G
NR_149091.2:n.450-217A>G
NR_149092.2:n.616-217A>G
NR_149093.2:n.1108A>G
NR_149094.2:n.1002A>G