Canonical Allele Identifier: CA374185501

Gene: XPA

Linked Data

• gnomAD v4: 9-97675555-T-C
• MyVariant Identifiers: chr9:g.100437837T>C (hg19) ; chr9:g.97675555T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675555T>C , CM000671.2:g.97675555T>C	GRCh38
NC_000009.11:g.100437837T>C , CM000671.1:g.100437837T>C	GRCh37
NC_000009.10:g.99477658T>C	NCBI36
NG_011642.1:g.26855A>G , LRG_471:g.26855A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.706A>G MANE Select	ENSP00000364270.5:p.Lys236Glu
ENST00000375128.4:c.706A>G	ENSP00000364270.4:p.Lys236Glu
ENST00000462523.5:c.*142A>G	ENSP00000433006.1:n.*142A>G
ENST00000485042.1:n.218A>G
NM_000380.3:c.706A>G , LRG_471t1:c.706A>G	NP_000371.1:p.Lys236Glu
NR_027302.1:n.1054A>G
XM_006717278.1:c.706A>G	XP_006717341.1:p.Lys236Glu
XM_011518988.1:c.706A>G	XP_011517290.1:p.Lys236Glu
XR_929839.1:n.1237A>G
NM_001354975.1:c.580A>G	NP_001341904.1:p.Lys194Glu
NR_149091.1:n.551A>G
NR_149092.1:n.717A>G
NR_149093.1:n.1243A>G
NR_149094.1:n.1137A>G
NM_000380.4:c.706A>G MANE Select	NP_000371.1:p.Lys236Glu
NM_001354975.2:c.580A>G	NP_001341904.1:p.Lys194Glu
NR_027302.2:n.985A>G
NR_149091.2:n.482A>G
NR_149092.2:n.648A>G
NR_149093.2:n.1174A>G
NR_149094.2:n.1068A>G