Canonical Allele Identifier: CA1866639547
Community Standard Title: NM_000380.4(XPA):c.284-1942T=
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97691581A= , CM000671.2:g.97691581A= GRCh38
NC_000009.11:g.100453863A= , CM000671.1:g.100453863A= GRCh37
NC_000009.10:g.99493684A= NCBI36
NG_011642.1:g.10829T= , LRG_471:g.10829T=

Transcript Alleles

HGVS Amino-acid Change
NM_000380.4:c.284-1942T= MANE Select NP_000371.1:n.284-1942T=
ENST00000375128.5:c.284-1942T= MANE Select ENSP00000364270.5:n.284-1942T=
NM_000380.3:c.284-1942T= , LRG_471t1:c.284-1942T= NP_000371.1:n.284-1942T=
NM_001354975.1:c.158-1942T= NP_001341904.1:n.158-1942T=
NM_001354975.2:c.158-1942T= NP_001341904.1:n.158-1942T=
NR_027302.1:n.401-1942T=
NR_027302.2:n.332-1942T=
NR_149091.1:n.400+2068T=
NR_149091.2:n.331+2068T=
NR_149092.1:n.400+2068T=
NR_149092.2:n.331+2068T=
NR_149093.1:n.401-1942T=
NR_149093.2:n.332-1942T=
NR_149094.1:n.400+2068T=
NR_149094.2:n.331+2068T=
ENST00000375128.4:c.284-1942T= ENSP00000364270.4:n.284-1942T=
ENST00000462523.5:c.284-1942T= ENSP00000433006.1:n.284-1942T=
ENST00000496104.1:n.183+2068T=
XM_006717278.1:c.284-1942T= XP_006717341.1:n.284-1942T=
XM_011518988.1:c.284-1942T= XP_011517290.1:n.284-1942T=
XR_929839.1:n.395-1942T=