Canonical Allele Identifier: CA466174810

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437793T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675511T>C , CM000671.2:g.97675511T>C	GRCh38
NC_000009.11:g.100437793T>C , CM000671.1:g.100437793T>C	GRCh37
NC_000009.10:g.99477614T>C	NCBI36
NG_011642.1:g.26899A>G , LRG_471:g.26899A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.750A>G MANE Select	ENSP00000364270.5:p.Glu250=
ENST00000375128.4:c.750A>G	ENSP00000364270.4:p.Glu250=
ENST00000462523.5:c.*186A>G	ENSP00000433006.1:n.*186A>G
ENST00000485042.1:n.262A>G
NM_000380.3:c.750A>G , LRG_471t1:c.750A>G	NP_000371.1:p.Glu250=
NR_027302.1:n.1098A>G
XM_006717278.1:c.750A>G	XP_006717341.1:p.Glu250=
XM_011518988.1:c.750A>G	XP_011517290.1:p.Glu250=
XR_929839.1:n.1281A>G
NM_001354975.1:c.624A>G	NP_001341904.1:p.Glu208=
NR_149091.1:n.595A>G
NR_149092.1:n.761A>G
NR_149093.1:n.1287A>G
NR_149094.1:n.1181A>G
NM_000380.4:c.750A>G MANE Select	NP_000371.1:p.Glu250=
NM_001354975.2:c.624A>G	NP_001341904.1:p.Glu208=
NR_027302.2:n.1029A>G
NR_149091.2:n.526A>G
NR_149092.2:n.692A>G
NR_149093.2:n.1218A>G
NR_149094.2:n.1112A>G