Canonical Allele Identifier: CA374185346

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437767T>G (hg19) ; chr9:g.97675485T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675485T>G , CM000671.2:g.97675485T>G	GRCh38
NC_000009.11:g.100437767T>G , CM000671.1:g.100437767T>G	GRCh37
NC_000009.10:g.99477588T>G	NCBI36
NG_011642.1:g.26925A>C , LRG_471:g.26925A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.776A>C MANE Select	ENSP00000364270.5:p.Lys259Thr
ENST00000375128.4:c.776A>C	ENSP00000364270.4:p.Lys259Thr
ENST00000462523.5:c.*212A>C	ENSP00000433006.1:n.*212A>C
ENST00000485042.1:n.288A>C
NM_000380.3:c.776A>C , LRG_471t1:c.776A>C	NP_000371.1:p.Lys259Thr
NR_027302.1:n.1124A>C
XM_006717278.1:c.772+4A>C	XP_006717341.1:n.772+4A>C
XM_011518988.1:c.772+4A>C	XP_011517290.1:n.772+4A>C
NM_001354975.1:c.650A>C	NP_001341904.1:p.Lys217Thr
NR_149091.1:n.621A>C
NR_149092.1:n.787A>C
NR_149093.1:n.1313A>C
NR_149094.1:n.1207A>C
NM_000380.4:c.776A>C MANE Select	NP_000371.1:p.Lys259Thr
NM_001354975.2:c.650A>C	NP_001341904.1:p.Lys217Thr
NR_027302.2:n.1055A>C
NR_149091.2:n.552A>C
NR_149092.2:n.718A>C
NR_149093.2:n.1244A>C
NR_149094.2:n.1138A>C