Canonical Allele Identifier: CA868996407

Gene: XPA

Linked Data

• dbSNP Id: rs1297097406
• gnomAD v3: 9-97675855-T-C
• gnomAD v4: 9-97675855-T-C
• MyVariant Identifiers: chr9:g.100438137T>C (hg19) ; chr9:g.97675855T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675855T>C , CM000671.2:g.97675855T>C	GRCh38
NC_000009.11:g.100438137T>C , CM000671.1:g.100438137T>C	GRCh37
NC_000009.10:g.99477958T>C	NCBI36
NG_011642.1:g.26555A>G , LRG_471:g.26555A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-268A>G MANE Select	ENSP00000364270.5:n.674-268A>G
ENST00000375128.4:c.674-268A>G	ENSP00000364270.4:n.674-268A>G
ENST00000462523.5:c.*110-268A>G	ENSP00000433006.1:n.*110-268A>G
ENST00000485042.1:n.101A>G
NM_000380.3:c.674-268A>G , LRG_471t1:c.674-268A>G	NP_000371.1:n.674-268A>G
NR_027302.1:n.1022-268A>G
XM_006717278.1:c.674-268A>G	XP_006717341.1:n.674-268A>G
XM_011518988.1:c.674-268A>G	XP_011517290.1:n.674-268A>G
XR_929839.1:n.1120A>G
NM_001354975.1:c.548-268A>G	NP_001341904.1:n.548-268A>G
NR_149091.1:n.519-268A>G
NR_149092.1:n.685-268A>G
NR_149093.1:n.1126A>G
NR_149094.1:n.1020A>G
NM_000380.4:c.674-268A>G MANE Select	NP_000371.1:n.674-268A>G
NM_001354975.2:c.548-268A>G	NP_001341904.1:n.548-268A>G
NR_027302.2:n.953-268A>G
NR_149091.2:n.450-268A>G
NR_149092.2:n.616-268A>G
NR_149093.2:n.1057A>G
NR_149094.2:n.951A>G