Canonical Allele Identifier: CA374187668

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97689534C>T , CM000671.2:g.97689534C>T	GRCh38
NC_000009.11:g.100451816C>T , CM000671.1:g.100451816C>T	GRCh37
NC_000009.10:g.99491637C>T	NCBI36
NG_011642.1:g.12876G>A , LRG_471:g.12876G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.389G>A MANE Select	NP_000371.1:p.Arg130Lys
ENST00000375128.5:c.389G>A MANE Select	ENSP00000364270.5:p.Arg130Lys
NM_000380.3:c.389G>A , LRG_471t1:c.389G>A	NP_000371.1:p.Arg130Lys
NM_001354975.1:c.263G>A	NP_001341904.1:p.Arg88Lys
NM_001354975.2:c.263G>A	NP_001341904.1:p.Arg88Lys
NR_027302.1:n.506G>A
NR_027302.2:n.437G>A
NR_149091.1:n.400+4115G>A
NR_149091.2:n.331+4115G>A
NR_149092.1:n.401-2273G>A
NR_149092.2:n.332-2273G>A
NR_149093.1:n.506G>A
NR_149093.2:n.437G>A
NR_149094.1:n.401-2273G>A
NR_149094.2:n.332-2273G>A
ENST00000375128.4:c.389G>A	ENSP00000364270.4:p.Arg130Lys
ENST00000462523.5:c.389G>A	ENSP00000433006.1:p.Arg130Lys
ENST00000496104.1:n.184-2273G>A
XM_006717278.1:c.389G>A	XP_006717341.1:p.Arg130Lys
XM_011518988.1:c.389G>A	XP_011517290.1:p.Arg130Lys
XR_929839.1:n.500G>A