Canonical Allele Identifier: CA374185532

Gene: XPA

Linked Data

• MyVariant Identifiers: chr9:g.100437850T>A (hg19) ; chr9:g.97675568T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675568T>A , CM000671.2:g.97675568T>A	GRCh38
NC_000009.11:g.100437850T>A , CM000671.1:g.100437850T>A	GRCh37
NC_000009.10:g.99477671T>A	NCBI36
NG_011642.1:g.26842A>T , LRG_471:g.26842A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.693A>T MANE Select	ENSP00000364270.5:p.Arg231Ser
ENST00000375128.4:c.693A>T	ENSP00000364270.4:p.Arg231Ser
ENST00000462523.5:c.*129A>T	ENSP00000433006.1:n.*129A>T
ENST00000485042.1:n.205A>T
NM_000380.3:c.693A>T , LRG_471t1:c.693A>T	NP_000371.1:p.Arg231Ser
NR_027302.1:n.1041A>T
XM_006717278.1:c.693A>T	XP_006717341.1:p.Arg231Ser
XM_011518988.1:c.693A>T	XP_011517290.1:p.Arg231Ser
XR_929839.1:n.1224A>T
NM_001354975.1:c.567A>T	NP_001341904.1:p.Arg189Ser
NR_149091.1:n.538A>T
NR_149092.1:n.704A>T
NR_149093.1:n.1230A>T
NR_149094.1:n.1124A>T
NM_000380.4:c.693A>T MANE Select	NP_000371.1:p.Arg231Ser
NM_001354975.2:c.567A>T	NP_001341904.1:p.Arg189Ser
NR_027302.2:n.972A>T
NR_149091.2:n.469A>T
NR_149092.2:n.635A>T
NR_149093.2:n.1161A>T
NR_149094.2:n.1055A>T