Canonical Allele Identifier: CA5148841

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97689592C>A , CM000671.2:g.97689592C>A	GRCh38
NC_000009.11:g.100451874C>A , CM000671.1:g.100451874C>A	GRCh37
NC_000009.10:g.99491695C>A	NCBI36
NG_011642.1:g.12818G>T , LRG_471:g.12818G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.331G>T MANE Select	NP_000371.1:p.Glu111Ter
ENST00000375128.5:c.331G>T MANE Select	ENSP00000364270.5:p.Glu111Ter
NM_000380.3:c.331G>T , LRG_471t1:c.331G>T	NP_000371.1:p.Glu111Ter
NM_001354975.1:c.205G>T	NP_001341904.1:p.Glu69Ter
NM_001354975.2:c.205G>T	NP_001341904.1:p.Glu69Ter
NR_027302.1:n.448G>T
NR_027302.2:n.379G>T
NR_149091.1:n.400+4057G>T
NR_149091.2:n.331+4057G>T
NR_149092.1:n.401-2331G>T
NR_149092.2:n.332-2331G>T
NR_149093.1:n.448G>T
NR_149093.2:n.379G>T
NR_149094.1:n.401-2331G>T
NR_149094.2:n.332-2331G>T
ENST00000375128.4:c.331G>T	ENSP00000364270.4:p.Glu111Ter
ENST00000462523.5:c.331G>T	ENSP00000433006.1:p.Glu111Ter
ENST00000496104.1:n.184-2331G>T
XM_006717278.1:c.331G>T	XP_006717341.1:p.Glu111Ter
XM_011518988.1:c.331G>T	XP_011517290.1:p.Glu111Ter
XR_929839.1:n.442G>T