Canonical Allele Identifier: CA374187261

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97687094A>T , CM000671.2:g.97687094A>T	GRCh38
NC_000009.11:g.100449376A>T , CM000671.1:g.100449376A>T	GRCh37
NC_000009.10:g.99489197A>T	NCBI36
NG_011642.1:g.15316T>A , LRG_471:g.15316T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.555+2T>A MANE Select	NP_000371.1:n.555+2T>A
ENST00000375128.5:c.555+2T>A MANE Select	ENSP00000364270.5:n.555+2T>A
NM_000380.3:c.555+2T>A , LRG_471t1:c.555+2T>A	NP_000371.1:n.555+2T>A
NM_001354975.1:c.429+2T>A	NP_001341904.1:n.429+2T>A
NM_001354975.2:c.429+2T>A	NP_001341904.1:n.429+2T>A
NR_027302.1:n.672+2T>A
NR_027302.2:n.603+2T>A
NR_149091.1:n.401-2054T>A
NR_149091.2:n.332-2054T>A
NR_149092.1:n.566+2T>A
NR_149092.2:n.497+2T>A
NR_149093.1:n.672+2T>A
NR_149093.2:n.603+2T>A
NR_149094.1:n.566+2T>A
NR_149094.2:n.497+2T>A
ENST00000375128.4:c.555+2T>A	ENSP00000364270.4:n.555+2T>A
ENST00000462523.5:c.555+2T>A	ENSP00000433006.1:n.555+2T>A
ENST00000496104.1:n.349+2T>A
XM_006717278.1:c.555+2T>A	XP_006717341.1:n.555+2T>A
XM_011518988.1:c.555+2T>A	XP_011517290.1:n.555+2T>A
XR_929839.1:n.666+2T>A