Canonical Allele Identifier: CA2552202276

Gene: XPA

Linked Data

• gnomAD v4: 9-97675411-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675411C>A , CM000671.2:g.97675411C>A	GRCh38
NC_000009.11:g.100437693C>A , CM000671.1:g.100437693C>A	GRCh37
NC_000009.10:g.99477514C>A	NCBI36
NG_011642.1:g.26999G>T , LRG_471:g.26999G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*28G>T MANE Select	ENSP00000364270.5:n.*28G>T
ENST00000375128.4:c.*28G>T	ENSP00000364270.4:n.*28G>T
ENST00000462523.5:c.*286G>T	ENSP00000433006.1:n.*286G>T
ENST00000485042.1:n.362G>T
NM_000380.3:c.*28G>T , LRG_471t1:c.*28G>T	NP_000371.1:n.*28G>T
NR_027302.1:n.1198G>T
XM_006717278.1:c.772+78G>T	XP_006717341.1:n.772+78G>T
XM_011518988.1:c.772+78G>T	XP_011517290.1:n.772+78G>T
NM_001354975.1:c.*28G>T	NP_001341904.1:n.*28G>T
NR_149091.1:n.695G>T
NR_149092.1:n.861G>T
NR_149093.1:n.1387G>T
NR_149094.1:n.1281G>T
NM_000380.4:c.*28G>T MANE Select	NP_000371.1:n.*28G>T
NM_001354975.2:c.*28G>T	NP_001341904.1:n.*28G>T
NR_027302.2:n.1129G>T
NR_149091.2:n.626G>T
NR_149092.2:n.792G>T
NR_149093.2:n.1318G>T
NR_149094.2:n.1212G>T