Canonical Allele Identifier: CA5148698

Gene: XPA

Linked Data

• ClinVar Variation Id: 1086993
• ClinVar RCV Id: RCV001404919
• dbSNP Id: rs776599020
• ExAC: 9:100437835 T / C
• gnomAD v2: 9-100437835-T-C
• gnomAD v4: 9-97675553-T-C
• MyVariant Identifiers: chr9:g.100437835T>C (hg19) ; chr9:g.97675553T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675553T>C , CM000671.2:g.97675553T>C	GRCh38
NC_000009.11:g.100437835T>C , CM000671.1:g.100437835T>C	GRCh37
NC_000009.10:g.99477656T>C	NCBI36
NG_011642.1:g.26857A>G , LRG_471:g.26857A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.708A>G MANE Select	ENSP00000364270.5:p.Lys236=
ENST00000375128.4:c.708A>G	ENSP00000364270.4:p.Lys236=
ENST00000462523.5:c.*144A>G	ENSP00000433006.1:n.*144A>G
ENST00000485042.1:n.220A>G
NM_000380.3:c.708A>G , LRG_471t1:c.708A>G	NP_000371.1:p.Lys236=
NR_027302.1:n.1056A>G
XM_006717278.1:c.708A>G	XP_006717341.1:p.Lys236=
XM_011518988.1:c.708A>G	XP_011517290.1:p.Lys236=
XR_929839.1:n.1239A>G
NM_001354975.1:c.582A>G	NP_001341904.1:p.Lys194=
NR_149091.1:n.553A>G
NR_149092.1:n.719A>G
NR_149093.1:n.1245A>G
NR_149094.1:n.1139A>G
NM_000380.4:c.708A>G MANE Select	NP_000371.1:p.Lys236=
NM_001354975.2:c.582A>G	NP_001341904.1:p.Lys194=
NR_027302.2:n.987A>G
NR_149091.2:n.484A>G
NR_149092.2:n.650A>G
NR_149093.2:n.1176A>G
NR_149094.2:n.1070A>G