Canonical Allele Identifier: CA2785233287

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675376A>T , CM000671.2:g.97675376A>T	GRCh38
NC_000009.11:g.100437658A>T , CM000671.1:g.100437658A>T	GRCh37
NC_000009.10:g.99477479A>T	NCBI36
NG_011642.1:g.27034T>A , LRG_471:g.27034T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*63T>A MANE Select	ENSP00000364270.5:n.*63T>A
ENST00000375128.4:c.*63T>A	ENSP00000364270.4:n.*63T>A
ENST00000462523.5:c.*321T>A	ENSP00000433006.1:n.*321T>A
ENST00000485042.1:n.397T>A
NM_000380.3:c.*63T>A , LRG_471t1:c.*63T>A	NP_000371.1:n.*63T>A
NR_027302.1:n.1233T>A
XM_006717278.1:c.772+113T>A	XP_006717341.1:n.772+113T>A
XM_011518988.1:c.772+113T>A	XP_011517290.1:n.772+113T>A
NM_001354975.1:c.*63T>A	NP_001341904.1:n.*63T>A
NR_149091.1:n.730T>A
NR_149092.1:n.896T>A
NR_149093.1:n.1422T>A
NR_149094.1:n.1316T>A
NM_000380.4:c.*63T>A MANE Select	NP_000371.1:n.*63T>A
NM_001354975.2:c.*63T>A	NP_001341904.1:n.*63T>A
NR_027302.2:n.1164T>A
NR_149091.2:n.661T>A
NR_149092.2:n.827T>A
NR_149093.2:n.1353T>A
NR_149094.2:n.1247T>A