Canonical Allele Identifier: CA5148825

Gene: XPA

Linked Data

• ClinVar Variation Id: 364089
• ClinVar RCV Id: RCV000321214 ; RCV002524578 ; RCV003957859
• dbSNP Id: rs373762653
• ExAC: 9:100449556 T / G
• gnomAD v2: 9-100449556-T-G
• gnomAD v3: 9-97687274-T-G
• gnomAD v4: 9-97687274-T-G
• MyVariant Identifiers: chr9:g.100449556T>G (hg19) ; chr9:g.97687274T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97687274T>G , CM000671.2:g.97687274T>G	GRCh38
NC_000009.11:g.100449556T>G , CM000671.1:g.100449556T>G	GRCh37
NC_000009.10:g.99489377T>G	NCBI36
NG_011642.1:g.15136A>C , LRG_471:g.15136A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.390-13A>C MANE Select	ENSP00000364270.5:n.390-13A>C
ENST00000375128.4:c.390-13A>C	ENSP00000364270.4:n.390-13A>C
ENST00000462523.5:c.390-13A>C	ENSP00000433006.1:n.390-13A>C
ENST00000496104.1:n.184-13A>C
NM_000380.3:c.390-13A>C , LRG_471t1:c.390-13A>C	NP_000371.1:n.390-13A>C
NR_027302.1:n.507-13A>C
XM_006717278.1:c.390-13A>C	XP_006717341.1:n.390-13A>C
XM_011518988.1:c.390-13A>C	XP_011517290.1:n.390-13A>C
XR_929839.1:n.501-13A>C
NM_001354975.1:c.264-13A>C	NP_001341904.1:n.264-13A>C
NR_149091.1:n.401-2234A>C
NR_149092.1:n.401-13A>C
NR_149093.1:n.507-13A>C
NR_149094.1:n.401-13A>C
NM_000380.4:c.390-13A>C MANE Select	NP_000371.1:n.390-13A>C
NM_001354975.2:c.264-13A>C	NP_001341904.1:n.264-13A>C
NR_027302.2:n.438-13A>C
NR_149091.2:n.332-2234A>C
NR_149092.2:n.332-13A>C
NR_149093.2:n.438-13A>C
NR_149094.2:n.332-13A>C