Canonical Allele Identifier: CA374185301

Gene: XPA

Linked Data

• gnomAD v4: 9-97675464-T-C
• MyVariant Identifiers: chr9:g.100437746T>C (hg19) ; chr9:g.97675464T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675464T>C , CM000671.2:g.97675464T>C	GRCh38
NC_000009.11:g.100437746T>C , CM000671.1:g.100437746T>C	GRCh37
NC_000009.10:g.99477567T>C	NCBI36
NG_011642.1:g.26946A>G , LRG_471:g.26946A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.797A>G MANE Select	ENSP00000364270.5:p.His266Arg
ENST00000375128.4:c.797A>G	ENSP00000364270.4:p.His266Arg
ENST00000462523.5:c.*233A>G	ENSP00000433006.1:n.*233A>G
ENST00000485042.1:n.309A>G
NM_000380.3:c.797A>G , LRG_471t1:c.797A>G	NP_000371.1:p.His266Arg
NR_027302.1:n.1145A>G
XM_006717278.1:c.772+25A>G	XP_006717341.1:n.772+25A>G
XM_011518988.1:c.772+25A>G	XP_011517290.1:n.772+25A>G
NM_001354975.1:c.671A>G	NP_001341904.1:p.His224Arg
NR_149091.1:n.642A>G
NR_149092.1:n.808A>G
NR_149093.1:n.1334A>G
NR_149094.1:n.1228A>G
NM_000380.4:c.797A>G MANE Select	NP_000371.1:p.His266Arg
NM_001354975.2:c.671A>G	NP_001341904.1:p.His224Arg
NR_027302.2:n.1076A>G
NR_149091.2:n.573A>G
NR_149092.2:n.739A>G
NR_149093.2:n.1265A>G
NR_149094.2:n.1159A>G