Canonical Allele Identifier: CA374185546

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437857G>C (hg19) ; chr9:g.97675575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675575G>C , CM000671.2:g.97675575G>C	GRCh38
NC_000009.11:g.100437857G>C , CM000671.1:g.100437857G>C	GRCh37
NC_000009.10:g.99477678G>C	NCBI36
NG_011642.1:g.26835C>G , LRG_471:g.26835C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.686C>G MANE Select	ENSP00000364270.5:p.Ala229Gly
ENST00000375128.4:c.686C>G	ENSP00000364270.4:p.Ala229Gly
ENST00000462523.5:c.*122C>G	ENSP00000433006.1:n.*122C>G
ENST00000485042.1:n.198C>G
NM_000380.3:c.686C>G , LRG_471t1:c.686C>G	NP_000371.1:p.Ala229Gly
NR_027302.1:n.1034C>G
XM_006717278.1:c.686C>G	XP_006717341.1:p.Ala229Gly
XM_011518988.1:c.686C>G	XP_011517290.1:p.Ala229Gly
XR_929839.1:n.1217C>G
NM_001354975.1:c.560C>G	NP_001341904.1:p.Ala187Gly
NR_149091.1:n.531C>G
NR_149092.1:n.697C>G
NR_149093.1:n.1223C>G
NR_149094.1:n.1117C>G
NM_000380.4:c.686C>G MANE Select	NP_000371.1:p.Ala229Gly
NM_001354975.2:c.560C>G	NP_001341904.1:p.Ala187Gly
NR_027302.2:n.965C>G
NR_149091.2:n.462C>G
NR_149092.2:n.628C>G
NR_149093.2:n.1154C>G
NR_149094.2:n.1048C>G