Canonical Allele Identifier: CA466174818

Gene: XPA

Linked Data

• dbSNP Id: rs1273381898
• gnomAD v3: 9-97675523-A-G
• gnomAD v4: 9-97675523-A-G
• MyVariant Identifiers: chr9:g.100437805A>G (hg19) ; chr9:g.97675523A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675523A>G , CM000671.2:g.97675523A>G	GRCh38
NC_000009.11:g.100437805A>G , CM000671.1:g.100437805A>G	GRCh37
NC_000009.10:g.99477626A>G	NCBI36
NG_011642.1:g.26887T>C , LRG_471:g.26887T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.738T>C MANE Select	ENSP00000364270.5:p.Tyr246=
ENST00000375128.4:c.738T>C	ENSP00000364270.4:p.Tyr246=
ENST00000462523.5:c.*174T>C	ENSP00000433006.1:n.*174T>C
ENST00000485042.1:n.250T>C
NM_000380.3:c.738T>C , LRG_471t1:c.738T>C	NP_000371.1:p.Tyr246=
NR_027302.1:n.1086T>C
XM_006717278.1:c.738T>C	XP_006717341.1:p.Tyr246=
XM_011518988.1:c.738T>C	XP_011517290.1:p.Tyr246=
XR_929839.1:n.1269T>C
NM_001354975.1:c.612T>C	NP_001341904.1:p.Tyr204=
NR_149091.1:n.583T>C
NR_149092.1:n.749T>C
NR_149093.1:n.1275T>C
NR_149094.1:n.1169T>C
NM_000380.4:c.738T>C MANE Select	NP_000371.1:p.Tyr246=
NM_001354975.2:c.612T>C	NP_001341904.1:p.Tyr204=
NR_027302.2:n.1017T>C
NR_149091.2:n.514T>C
NR_149092.2:n.680T>C
NR_149093.2:n.1206T>C
NR_149094.2:n.1100T>C