Canonical Allele Identifier: CA374185350

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437768T>G (hg19) ; chr9:g.97675486T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675486T>G , CM000671.2:g.97675486T>G	GRCh38
NC_000009.11:g.100437768T>G , CM000671.1:g.100437768T>G	GRCh37
NC_000009.10:g.99477589T>G	NCBI36
NG_011642.1:g.26924A>C , LRG_471:g.26924A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.775A>C MANE Select	ENSP00000364270.5:p.Lys259Gln
ENST00000375128.4:c.775A>C	ENSP00000364270.4:p.Lys259Gln
ENST00000462523.5:c.*211A>C	ENSP00000433006.1:n.*211A>C
ENST00000485042.1:n.287A>C
NM_000380.3:c.775A>C , LRG_471t1:c.775A>C	NP_000371.1:p.Lys259Gln
NR_027302.1:n.1123A>C
XM_006717278.1:c.772+3A>C	XP_006717341.1:n.772+3A>C
XM_011518988.1:c.772+3A>C	XP_011517290.1:n.772+3A>C
NM_001354975.1:c.649A>C	NP_001341904.1:p.Lys217Gln
NR_149091.1:n.620A>C
NR_149092.1:n.786A>C
NR_149093.1:n.1312A>C
NR_149094.1:n.1206A>C
NM_000380.4:c.775A>C MANE Select	NP_000371.1:p.Lys259Gln
NM_001354975.2:c.649A>C	NP_001341904.1:p.Lys217Gln
NR_027302.2:n.1054A>C
NR_149091.2:n.551A>C
NR_149092.2:n.717A>C
NR_149093.2:n.1243A>C
NR_149094.2:n.1137A>C