Canonical Allele Identifier: CA5148679

Gene: XPA

Linked Data

• ClinVar Variation Id: 1692421
• ClinVar RCV Id: RCV002255910
• dbSNP Id: rs763929562
• ExAC: 9:100437770 C / T
• gnomAD v2: 9-100437770-C-T
• gnomAD v3: 9-97675488-C-T
• gnomAD v4: 9-97675488-C-T
• MyVariant Identifiers: chr9:g.100437770C>T (hg19) ; chr9:g.97675488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675488C>T , CM000671.2:g.97675488C>T	GRCh38
NC_000009.11:g.100437770C>T , CM000671.1:g.100437770C>T	GRCh37
NC_000009.10:g.99477591C>T	NCBI36
NG_011642.1:g.26922G>A , LRG_471:g.26922G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.773G>A MANE Select	ENSP00000364270.5:p.Arg258His
ENST00000375128.4:c.773G>A	ENSP00000364270.4:p.Arg258His
ENST00000462523.5:c.*209G>A	ENSP00000433006.1:n.*209G>A
ENST00000485042.1:n.285G>A
NM_000380.3:c.773G>A , LRG_471t1:c.773G>A	NP_000371.1:p.Arg258His
NR_027302.1:n.1121G>A
XM_006717278.1:c.772+1G>A	XP_006717341.1:n.772+1G>A
XM_011518988.1:c.772+1G>A	XP_011517290.1:n.772+1G>A
NM_001354975.1:c.647G>A	NP_001341904.1:p.Arg216His
NR_149091.1:n.618G>A
NR_149092.1:n.784G>A
NR_149093.1:n.1310G>A
NR_149094.1:n.1204G>A
NM_000380.4:c.773G>A MANE Select	NP_000371.1:p.Arg258His
NM_001354975.2:c.647G>A	NP_001341904.1:p.Arg216His
NR_027302.2:n.1052G>A
NR_149091.2:n.549G>A
NR_149092.2:n.715G>A
NR_149093.2:n.1241G>A
NR_149094.2:n.1135G>A