Canonical Allele Identifier: CA2690901652

Gene: XPA

Linked Data

• gnomAD v4: 9-97675360-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675360T>C , CM000671.2:g.97675360T>C	GRCh38
NC_000009.11:g.100437642T>C , CM000671.1:g.100437642T>C	GRCh37
NC_000009.10:g.99477463T>C	NCBI36
NG_011642.1:g.27050A>G , LRG_471:g.27050A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*79A>G MANE Select	ENSP00000364270.5:n.*79A>G
ENST00000375128.4:c.*79A>G	ENSP00000364270.4:n.*79A>G
ENST00000462523.5:c.*337A>G	ENSP00000433006.1:n.*337A>G
ENST00000485042.1:n.413A>G
NM_000380.3:c.*79A>G , LRG_471t1:c.*79A>G	NP_000371.1:n.*79A>G
NR_027302.1:n.1249A>G
XM_006717278.1:c.772+129A>G	XP_006717341.1:n.772+129A>G
XM_011518988.1:c.772+129A>G	XP_011517290.1:n.772+129A>G
NM_001354975.1:c.*79A>G	NP_001341904.1:n.*79A>G
NR_149091.1:n.746A>G
NR_149092.1:n.912A>G
NR_149093.1:n.1438A>G
NR_149094.1:n.1332A>G
NM_000380.4:c.*79A>G MANE Select	NP_000371.1:n.*79A>G
NM_001354975.2:c.*79A>G	NP_001341904.1:n.*79A>G
NR_027302.2:n.1180A>G
NR_149091.2:n.677A>G
NR_149092.2:n.843A>G
NR_149093.2:n.1369A>G
NR_149094.2:n.1263A>G