Canonical Allele Identifier: CA374185478

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437828T>C (hg19) ; chr9:g.97675546T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675546T>C , CM000671.2:g.97675546T>C	GRCh38
NC_000009.11:g.100437828T>C , CM000671.1:g.100437828T>C	GRCh37
NC_000009.10:g.99477649T>C	NCBI36
NG_011642.1:g.26864A>G , LRG_471:g.26864A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.715A>G MANE Select	ENSP00000364270.5:p.Thr239Ala
ENST00000375128.4:c.715A>G	ENSP00000364270.4:p.Thr239Ala
ENST00000462523.5:c.*151A>G	ENSP00000433006.1:n.*151A>G
ENST00000485042.1:n.227A>G
NM_000380.3:c.715A>G , LRG_471t1:c.715A>G	NP_000371.1:p.Thr239Ala
NR_027302.1:n.1063A>G
XM_006717278.1:c.715A>G	XP_006717341.1:p.Thr239Ala
XM_011518988.1:c.715A>G	XP_011517290.1:p.Thr239Ala
XR_929839.1:n.1246A>G
NM_001354975.1:c.589A>G	NP_001341904.1:p.Thr197Ala
NR_149091.1:n.560A>G
NR_149092.1:n.726A>G
NR_149093.1:n.1252A>G
NR_149094.1:n.1146A>G
NM_000380.4:c.715A>G MANE Select	NP_000371.1:p.Thr239Ala
NM_001354975.2:c.589A>G	NP_001341904.1:p.Thr197Ala
NR_027302.2:n.994A>G
NR_149091.2:n.491A>G
NR_149092.2:n.657A>G
NR_149093.2:n.1183A>G
NR_149094.2:n.1077A>G