Canonical Allele Identifier: CA374185245

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437723A>C (hg19) ; chr9:g.97675441A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675441A>C , CM000671.2:g.97675441A>C	GRCh38
NC_000009.11:g.100437723A>C , CM000671.1:g.100437723A>C	GRCh37
NC_000009.10:g.99477544A>C	NCBI36
NG_011642.1:g.26969T>G , LRG_471:g.26969T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.820T>G MANE Select	ENSP00000364270.5:p.Ter274Gly
ENST00000375128.4:c.820T>G	ENSP00000364270.4:p.Ter274Gly
ENST00000462523.5:c.*256T>G	ENSP00000433006.1:n.*256T>G
ENST00000485042.1:n.332T>G
NM_000380.3:c.820T>G , LRG_471t1:c.820T>G	NP_000371.1:p.Ter274Gly
NR_027302.1:n.1168T>G
XM_006717278.1:c.772+48T>G	XP_006717341.1:n.772+48T>G
XM_011518988.1:c.772+48T>G	XP_011517290.1:n.772+48T>G
NM_001354975.1:c.694T>G	NP_001341904.1:p.Ter232Gly
NR_149091.1:n.665T>G
NR_149092.1:n.831T>G
NR_149093.1:n.1357T>G
NR_149094.1:n.1251T>G
NM_000380.4:c.820T>G MANE Select	NP_000371.1:p.Ter274Gly
NM_001354975.2:c.694T>G	NP_001341904.1:p.Ter232Gly
NR_027302.2:n.1099T>G
NR_149091.2:n.596T>G
NR_149092.2:n.762T>G
NR_149093.2:n.1288T>G
NR_149094.2:n.1182T>G