Canonical Allele Identifier: CA589582385

Gene: XPA

Linked Data

• dbSNP Id: rs1441823996
• gnomAD v2: 9-100437664-C-A
• gnomAD v4: 9-97675382-C-A
• MyVariant Identifiers: chr9:g.100437664C>A (hg19) ; chr9:g.97675382C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675382C>A , CM000671.2:g.97675382C>A	GRCh38
NC_000009.11:g.100437664C>A , CM000671.1:g.100437664C>A	GRCh37
NC_000009.10:g.99477485C>A	NCBI36
NG_011642.1:g.27028G>T , LRG_471:g.27028G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*57G>T MANE Select	ENSP00000364270.5:n.*57G>T
ENST00000375128.4:c.*57G>T	ENSP00000364270.4:n.*57G>T
ENST00000462523.5:c.*315G>T	ENSP00000433006.1:n.*315G>T
ENST00000485042.1:n.391G>T
NM_000380.3:c.*57G>T , LRG_471t1:c.*57G>T	NP_000371.1:n.*57G>T
NR_027302.1:n.1227G>T
XM_006717278.1:c.772+107G>T	XP_006717341.1:n.772+107G>T
XM_011518988.1:c.772+107G>T	XP_011517290.1:n.772+107G>T
NM_001354975.1:c.*57G>T	NP_001341904.1:n.*57G>T
NR_149091.1:n.724G>T
NR_149092.1:n.890G>T
NR_149093.1:n.1416G>T
NR_149094.1:n.1310G>T
NM_000380.4:c.*57G>T MANE Select	NP_000371.1:n.*57G>T
NM_001354975.2:c.*57G>T	NP_001341904.1:n.*57G>T
NR_027302.2:n.1158G>T
NR_149091.2:n.655G>T
NR_149092.2:n.821G>T
NR_149093.2:n.1347G>T
NR_149094.2:n.1241G>T