Canonical Allele Identifier: CA374185542

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437855C>G (hg19) ; chr9:g.97675573C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675573C>G , CM000671.2:g.97675573C>G	GRCh38
NC_000009.11:g.100437855C>G , CM000671.1:g.100437855C>G	GRCh37
NC_000009.10:g.99477676C>G	NCBI36
NG_011642.1:g.26837G>C , LRG_471:g.26837G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.688G>C MANE Select	ENSP00000364270.5:p.Val230Leu
ENST00000375128.4:c.688G>C	ENSP00000364270.4:p.Val230Leu
ENST00000462523.5:c.*124G>C	ENSP00000433006.1:n.*124G>C
ENST00000485042.1:n.200G>C
NM_000380.3:c.688G>C , LRG_471t1:c.688G>C	NP_000371.1:p.Val230Leu
NR_027302.1:n.1036G>C
XM_006717278.1:c.688G>C	XP_006717341.1:p.Val230Leu
XM_011518988.1:c.688G>C	XP_011517290.1:p.Val230Leu
XR_929839.1:n.1219G>C
NM_001354975.1:c.562G>C	NP_001341904.1:p.Val188Leu
NR_149091.1:n.533G>C
NR_149092.1:n.699G>C
NR_149093.1:n.1225G>C
NR_149094.1:n.1119G>C
NM_000380.4:c.688G>C MANE Select	NP_000371.1:p.Val230Leu
NM_001354975.2:c.562G>C	NP_001341904.1:p.Val188Leu
NR_027302.2:n.967G>C
NR_149091.2:n.464G>C
NR_149092.2:n.630G>C
NR_149093.2:n.1156G>C
NR_149094.2:n.1050G>C