Canonical Allele Identifier: CA2690901665

Gene: XPA

Linked Data

• gnomAD v4: 9-97675378-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675378C>T , CM000671.2:g.97675378C>T	GRCh38
NC_000009.11:g.100437660C>T , CM000671.1:g.100437660C>T	GRCh37
NC_000009.10:g.99477481C>T	NCBI36
NG_011642.1:g.27032G>A , LRG_471:g.27032G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*61G>A MANE Select	ENSP00000364270.5:n.*61G>A
ENST00000375128.4:c.*61G>A	ENSP00000364270.4:n.*61G>A
ENST00000462523.5:c.*319G>A	ENSP00000433006.1:n.*319G>A
ENST00000485042.1:n.395G>A
NM_000380.3:c.*61G>A , LRG_471t1:c.*61G>A	NP_000371.1:n.*61G>A
NR_027302.1:n.1231G>A
XM_006717278.1:c.772+111G>A	XP_006717341.1:n.772+111G>A
XM_011518988.1:c.772+111G>A	XP_011517290.1:n.772+111G>A
NM_001354975.1:c.*61G>A	NP_001341904.1:n.*61G>A
NR_149091.1:n.728G>A
NR_149092.1:n.894G>A
NR_149093.1:n.1420G>A
NR_149094.1:n.1314G>A
NM_000380.4:c.*61G>A MANE Select	NP_000371.1:n.*61G>A
NM_001354975.2:c.*61G>A	NP_001341904.1:n.*61G>A
NR_027302.2:n.1162G>A
NR_149091.2:n.659G>A
NR_149092.2:n.825G>A
NR_149093.2:n.1351G>A
NR_149094.2:n.1245G>A