Canonical Allele Identifier: CA374185561

Gene: XPA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675584A>T , CM000671.2:g.97675584A>T	GRCh38
NC_000009.11:g.100437866A>T , CM000671.1:g.100437866A>T	GRCh37
NC_000009.10:g.99477687A>T	NCBI36
NG_011642.1:g.26826T>A , LRG_471:g.26826T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000380.4:c.677T>A MANE Select	NP_000371.1:p.Leu226Ter
ENST00000375128.5:c.677T>A MANE Select	ENSP00000364270.5:p.Leu226Ter
NM_000380.3:c.677T>A , LRG_471t1:c.677T>A	NP_000371.1:p.Leu226Ter
NM_001354975.1:c.551T>A	NP_001341904.1:p.Leu184Ter
NM_001354975.2:c.551T>A	NP_001341904.1:p.Leu184Ter
NR_027302.1:n.1025T>A
NR_027302.2:n.956T>A
NR_149091.1:n.522T>A
NR_149091.2:n.453T>A
NR_149092.1:n.688T>A
NR_149092.2:n.619T>A
NR_149093.1:n.1214T>A
NR_149093.2:n.1145T>A
NR_149094.1:n.1108T>A
NR_149094.2:n.1039T>A
ENST00000375128.4:c.677T>A	ENSP00000364270.4:p.Leu226Ter
ENST00000462523.5:c.*113T>A	ENSP00000433006.1:n.*113T>A
ENST00000485042.1:n.189T>A
XM_006717278.1:c.677T>A	XP_006717341.1:p.Leu226Ter
XM_011518988.1:c.677T>A	XP_011517290.1:p.Leu226Ter
XR_929839.1:n.1208T>A