Canonical Allele Identifier: CA466174801

Gene: XPA

Linked Data

• COSMIC: COSM3367465
• MyVariant Identifiers: chr9:g.100437766C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675484C>T , CM000671.2:g.97675484C>T	GRCh38
NC_000009.11:g.100437766C>T , CM000671.1:g.100437766C>T	GRCh37
NC_000009.10:g.99477587C>T	NCBI36
NG_011642.1:g.26926G>A , LRG_471:g.26926G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.777G>A MANE Select	ENSP00000364270.5:p.Lys259=
ENST00000375128.4:c.777G>A	ENSP00000364270.4:p.Lys259=
ENST00000462523.5:c.*213G>A	ENSP00000433006.1:n.*213G>A
ENST00000485042.1:n.289G>A
NM_000380.3:c.777G>A , LRG_471t1:c.777G>A	NP_000371.1:p.Lys259=
NR_027302.1:n.1125G>A
XM_006717278.1:c.772+5G>A	XP_006717341.1:n.772+5G>A
XM_011518988.1:c.772+5G>A	XP_011517290.1:n.772+5G>A
NM_001354975.1:c.651G>A	NP_001341904.1:p.Lys217=
NR_149091.1:n.622G>A
NR_149092.1:n.788G>A
NR_149093.1:n.1314G>A
NR_149094.1:n.1208G>A
NM_000380.4:c.777G>A MANE Select	NP_000371.1:p.Lys259=
NM_001354975.2:c.651G>A	NP_001341904.1:p.Lys217=
NR_027302.2:n.1056G>A
NR_149091.2:n.553G>A
NR_149092.2:n.719G>A
NR_149093.2:n.1245G>A
NR_149094.2:n.1139G>A