Canonical Allele Identifier: CA5148678

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675487A>T , CM000671.2:g.97675487A>T	GRCh38
NC_000009.11:g.100437769A>T , CM000671.1:g.100437769A>T	GRCh37
NC_000009.10:g.99477590A>T	NCBI36
NG_011642.1:g.26923T>A , LRG_471:g.26923T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.774T>A MANE Select	NP_000371.1:p.Arg258=
ENST00000375128.5:c.774T>A MANE Select	ENSP00000364270.5:p.Arg258=
NM_000380.3:c.774T>A , LRG_471t1:c.774T>A	NP_000371.1:p.Arg258=
NM_001354975.1:c.648T>A	NP_001341904.1:p.Arg216=
NM_001354975.2:c.648T>A	NP_001341904.1:p.Arg216=
NR_027302.1:n.1122T>A
NR_027302.2:n.1053T>A
NR_149091.1:n.619T>A
NR_149091.2:n.550T>A
NR_149092.1:n.785T>A
NR_149092.2:n.716T>A
NR_149093.1:n.1311T>A
NR_149093.2:n.1242T>A
NR_149094.1:n.1205T>A
NR_149094.2:n.1136T>A
ENST00000375128.4:c.774T>A	ENSP00000364270.4:p.Arg258=
ENST00000462523.5:c.*210T>A	ENSP00000433006.1:n.*210T>A
ENST00000485042.1:n.286T>A
XM_006717278.1:c.772+2T>A	XP_006717341.1:n.772+2T>A
XM_011518988.1:c.772+2T>A	XP_011517290.1:n.772+2T>A