Canonical Allele Identifier: CA5148692

Gene: XPA

Linked Data

• dbSNP Id: rs745428571
• ExAC: 9:100437818 T / C
• gnomAD v4: 9-97675536-T-C
• MyVariant Identifiers: chr9:g.100437818T>C (hg19) ; chr9:g.97675536T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.725A>G MANE Select	ENSP00000364270.5:p.His242Arg
ENST00000375128.4:c.725A>G	ENSP00000364270.4:p.His242Arg
ENST00000462523.5:c.*161A>G	ENSP00000433006.1:n.*161A>G
ENST00000485042.1:n.237A>G
NM_000380.3:c.725A>G , LRG_471t1:c.725A>G	NP_000371.1:p.His242Arg
NR_027302.1:n.1073A>G
XM_006717278.1:c.725A>G	XP_006717341.1:p.His242Arg
XM_011518988.1:c.725A>G	XP_011517290.1:p.His242Arg
XR_929839.1:n.1256A>G
NM_001354975.1:c.599A>G	NP_001341904.1:p.His200Arg
NR_149091.1:n.570A>G
NR_149092.1:n.736A>G
NR_149093.1:n.1262A>G
NR_149094.1:n.1156A>G
NM_000380.4:c.725A>G MANE Select	NP_000371.1:p.His242Arg
NM_001354975.2:c.599A>G	NP_001341904.1:p.His200Arg
NR_027302.2:n.1004A>G
NR_149091.2:n.501A>G
NR_149092.2:n.667A>G
NR_149093.2:n.1193A>G
NR_149094.2:n.1087A>G