Canonical Allele Identifier: CA196745470

Gene: XPA

Linked Data

• dbSNP Id: rs933356367
• gnomAD v3: 9-97675867-C-A
• gnomAD v4: 9-97675867-C-A
• MyVariant Identifiers: chr9:g.100438149C>A (hg19) ; chr9:g.97675867C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675867C>A , CM000671.2:g.97675867C>A	GRCh38
NC_000009.11:g.100438149C>A , CM000671.1:g.100438149C>A	GRCh37
NC_000009.10:g.99477970C>A	NCBI36
NG_011642.1:g.26543G>T , LRG_471:g.26543G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-280G>T MANE Select	ENSP00000364270.5:n.674-280G>T
ENST00000375128.4:c.674-280G>T	ENSP00000364270.4:n.674-280G>T
ENST00000462523.5:c.*110-280G>T	ENSP00000433006.1:n.*110-280G>T
ENST00000485042.1:n.89G>T
NM_000380.3:c.674-280G>T , LRG_471t1:c.674-280G>T	NP_000371.1:n.674-280G>T
NR_027302.1:n.1022-280G>T
XM_006717278.1:c.674-280G>T	XP_006717341.1:n.674-280G>T
XM_011518988.1:c.674-280G>T	XP_011517290.1:n.674-280G>T
XR_929839.1:n.1108G>T
NM_001354975.1:c.548-280G>T	NP_001341904.1:n.548-280G>T
NR_149091.1:n.519-280G>T
NR_149092.1:n.685-280G>T
NR_149093.1:n.1114G>T
NR_149094.1:n.1008G>T
NM_000380.4:c.674-280G>T MANE Select	NP_000371.1:n.674-280G>T
NM_001354975.2:c.548-280G>T	NP_001341904.1:n.548-280G>T
NR_027302.2:n.953-280G>T
NR_149091.2:n.450-280G>T
NR_149092.2:n.616-280G>T
NR_149093.2:n.1045G>T
NR_149094.2:n.939G>T