Canonical Allele Identifier: CA2690901666

Gene: XPA

Linked Data

• gnomAD v4: 9-97675379-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675379A>T , CM000671.2:g.97675379A>T	GRCh38
NC_000009.11:g.100437661A>T , CM000671.1:g.100437661A>T	GRCh37
NC_000009.10:g.99477482A>T	NCBI36
NG_011642.1:g.27031T>A , LRG_471:g.27031T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*60T>A MANE Select	ENSP00000364270.5:n.*60T>A
ENST00000375128.4:c.*60T>A	ENSP00000364270.4:n.*60T>A
ENST00000462523.5:c.*318T>A	ENSP00000433006.1:n.*318T>A
ENST00000485042.1:n.394T>A
NM_000380.3:c.*60T>A , LRG_471t1:c.*60T>A	NP_000371.1:n.*60T>A
NR_027302.1:n.1230T>A
XM_006717278.1:c.772+110T>A	XP_006717341.1:n.772+110T>A
XM_011518988.1:c.772+110T>A	XP_011517290.1:n.772+110T>A
NM_001354975.1:c.*60T>A	NP_001341904.1:n.*60T>A
NR_149091.1:n.727T>A
NR_149092.1:n.893T>A
NR_149093.1:n.1419T>A
NR_149094.1:n.1313T>A
NM_000380.4:c.*60T>A MANE Select	NP_000371.1:n.*60T>A
NM_001354975.2:c.*60T>A	NP_001341904.1:n.*60T>A
NR_027302.2:n.1161T>A
NR_149091.2:n.658T>A
NR_149092.2:n.824T>A
NR_149093.2:n.1350T>A
NR_149094.2:n.1244T>A