Canonical Allele Identifier: CA374185539

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437854A>G (hg19) ; chr9:g.97675572A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675572A>G , CM000671.2:g.97675572A>G	GRCh38
NC_000009.11:g.100437854A>G , CM000671.1:g.100437854A>G	GRCh37
NC_000009.10:g.99477675A>G	NCBI36
NG_011642.1:g.26838T>C , LRG_471:g.26838T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.689T>C MANE Select	ENSP00000364270.5:p.Val230Ala
ENST00000375128.4:c.689T>C	ENSP00000364270.4:p.Val230Ala
ENST00000462523.5:c.*125T>C	ENSP00000433006.1:n.*125T>C
ENST00000485042.1:n.201T>C
NM_000380.3:c.689T>C , LRG_471t1:c.689T>C	NP_000371.1:p.Val230Ala
NR_027302.1:n.1037T>C
XM_006717278.1:c.689T>C	XP_006717341.1:p.Val230Ala
XM_011518988.1:c.689T>C	XP_011517290.1:p.Val230Ala
XR_929839.1:n.1220T>C
NM_001354975.1:c.563T>C	NP_001341904.1:p.Val188Ala
NR_149091.1:n.534T>C
NR_149092.1:n.700T>C
NR_149093.1:n.1226T>C
NR_149094.1:n.1120T>C
NM_000380.4:c.689T>C MANE Select	NP_000371.1:p.Val230Ala
NM_001354975.2:c.563T>C	NP_001341904.1:p.Val188Ala
NR_027302.2:n.968T>C
NR_149091.2:n.465T>C
NR_149092.2:n.631T>C
NR_149093.2:n.1157T>C
NR_149094.2:n.1051T>C