Canonical Allele Identifier: CA374185459

Gene: XPA

Linked Data

• COSMIC: COSM1103047
• MyVariant Identifiers: chr9:g.100437818T>A (hg19) ; chr9:g.97675536T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675536T>A , CM000671.2:g.97675536T>A	GRCh38
NC_000009.11:g.100437818T>A , CM000671.1:g.100437818T>A	GRCh37
NC_000009.10:g.99477639T>A	NCBI36
NG_011642.1:g.26874A>T , LRG_471:g.26874A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.725A>T MANE Select	ENSP00000364270.5:p.His242Leu
ENST00000375128.4:c.725A>T	ENSP00000364270.4:p.His242Leu
ENST00000462523.5:c.*161A>T	ENSP00000433006.1:n.*161A>T
ENST00000485042.1:n.237A>T
NM_000380.3:c.725A>T , LRG_471t1:c.725A>T	NP_000371.1:p.His242Leu
NR_027302.1:n.1073A>T
XM_006717278.1:c.725A>T	XP_006717341.1:p.His242Leu
XM_011518988.1:c.725A>T	XP_011517290.1:p.His242Leu
XR_929839.1:n.1256A>T
NM_001354975.1:c.599A>T	NP_001341904.1:p.His200Leu
NR_149091.1:n.570A>T
NR_149092.1:n.736A>T
NR_149093.1:n.1262A>T
NR_149094.1:n.1156A>T
NM_000380.4:c.725A>T MANE Select	NP_000371.1:p.His242Leu
NM_001354975.2:c.599A>T	NP_001341904.1:p.His200Leu
NR_027302.2:n.1004A>T
NR_149091.2:n.501A>T
NR_149092.2:n.667A>T
NR_149093.2:n.1193A>T
NR_149094.2:n.1087A>T