Canonical Allele Identifier: CA374185514

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437842A>G (hg19) ; chr9:g.97675560A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675560A>G , CM000671.2:g.97675560A>G	GRCh38
NC_000009.11:g.100437842A>G , CM000671.1:g.100437842A>G	GRCh37
NC_000009.10:g.99477663A>G	NCBI36
NG_011642.1:g.26850T>C , LRG_471:g.26850T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.701T>C MANE Select	ENSP00000364270.5:p.Val234Ala
ENST00000375128.4:c.701T>C	ENSP00000364270.4:p.Val234Ala
ENST00000462523.5:c.*137T>C	ENSP00000433006.1:n.*137T>C
ENST00000485042.1:n.213T>C
NM_000380.3:c.701T>C , LRG_471t1:c.701T>C	NP_000371.1:p.Val234Ala
NR_027302.1:n.1049T>C
XM_006717278.1:c.701T>C	XP_006717341.1:p.Val234Ala
XM_011518988.1:c.701T>C	XP_011517290.1:p.Val234Ala
XR_929839.1:n.1232T>C
NM_001354975.1:c.575T>C	NP_001341904.1:p.Val192Ala
NR_149091.1:n.546T>C
NR_149092.1:n.712T>C
NR_149093.1:n.1238T>C
NR_149094.1:n.1132T>C
NM_000380.4:c.701T>C MANE Select	NP_000371.1:p.Val234Ala
NM_001354975.2:c.575T>C	NP_001341904.1:p.Val192Ala
NR_027302.2:n.980T>C
NR_149091.2:n.477T>C
NR_149092.2:n.643T>C
NR_149093.2:n.1169T>C
NR_149094.2:n.1063T>C