Canonical Allele Identifier: CA5148878

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97693698T>C , CM000671.2:g.97693698T>C	GRCh38
NC_000009.11:g.100455980T>C , CM000671.1:g.100455980T>C	GRCh37
NC_000009.10:g.99495801T>C	NCBI36
NG_011642.1:g.8712A>G , LRG_471:g.8712A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.234A>G MANE Select	NP_000371.1:p.Glu78=
ENST00000375128.5:c.234A>G MANE Select	ENSP00000364270.5:p.Glu78=
NM_000380.3:c.234A>G , LRG_471t1:c.234A>G	NP_000371.1:p.Glu78=
NM_001354975.1:c.108A>G	NP_001341904.1:p.Glu36=
NM_001354975.2:c.108A>G	NP_001341904.1:p.Glu36=
NR_027302.1:n.351A>G
NR_027302.2:n.282A>G
NR_149091.1:n.351A>G
NR_149091.2:n.282A>G
NR_149092.1:n.351A>G
NR_149092.2:n.282A>G
NR_149093.1:n.351A>G
NR_149093.2:n.282A>G
NR_149094.1:n.351A>G
NR_149094.2:n.282A>G
ENST00000375128.4:c.234A>G	ENSP00000364270.4:p.Glu78=
ENST00000462523.5:c.234A>G	ENSP00000433006.1:p.Glu78=
ENST00000496104.1:n.134A>G
XM_006717278.1:c.234A>G	XP_006717341.1:p.Glu78=
XM_011518988.1:c.234A>G	XP_011517290.1:p.Glu78=
XR_929839.1:n.345A>G