Canonical Allele Identifier: CA374185409

Gene: XPA

Linked Data

• dbSNP Id: rs1207866812
• gnomAD v3: 9-97675514-T-A
• gnomAD v4: 9-97675514-T-A
• MyVariant Identifiers: chr9:g.100437796T>A (hg19) ; chr9:g.97675514T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675514T>A , CM000671.2:g.97675514T>A	GRCh38
NC_000009.11:g.100437796T>A , CM000671.1:g.100437796T>A	GRCh37
NC_000009.10:g.99477617T>A	NCBI36
NG_011642.1:g.26896A>T , LRG_471:g.26896A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.747A>T MANE Select	ENSP00000364270.5:p.Glu249Asp
ENST00000375128.4:c.747A>T	ENSP00000364270.4:p.Glu249Asp
ENST00000462523.5:c.*183A>T	ENSP00000433006.1:n.*183A>T
ENST00000485042.1:n.259A>T
NM_000380.3:c.747A>T , LRG_471t1:c.747A>T	NP_000371.1:p.Glu249Asp
NR_027302.1:n.1095A>T
XM_006717278.1:c.747A>T	XP_006717341.1:p.Glu249Asp
XM_011518988.1:c.747A>T	XP_011517290.1:p.Glu249Asp
XR_929839.1:n.1278A>T
NM_001354975.1:c.621A>T	NP_001341904.1:p.Glu207Asp
NR_149091.1:n.592A>T
NR_149092.1:n.758A>T
NR_149093.1:n.1284A>T
NR_149094.1:n.1178A>T
NM_000380.4:c.747A>T MANE Select	NP_000371.1:p.Glu249Asp
NM_001354975.2:c.621A>T	NP_001341904.1:p.Glu207Asp
NR_027302.2:n.1026A>T
NR_149091.2:n.523A>T
NR_149092.2:n.689A>T
NR_149093.2:n.1215A>T
NR_149094.2:n.1109A>T