Canonical Allele Identifier: CA5148686

Gene: XPA

Linked Data

• dbSNP Id: rs531005089
• ExAC: 9:100437784 T / A
• gnomAD v2: 9-100437784-T-A
• gnomAD v3: 9-97675502-T-A
• gnomAD v4: 9-97675502-T-A
• MyVariant Identifiers: chr9:g.100437784T>A (hg19) ; chr9:g.97675502T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675502T>A , CM000671.2:g.97675502T>A	GRCh38
NC_000009.11:g.100437784T>A , CM000671.1:g.100437784T>A	GRCh37
NC_000009.10:g.99477605T>A	NCBI36
NG_011642.1:g.26908A>T , LRG_471:g.26908A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.759A>T MANE Select	ENSP00000364270.5:p.Glu253Asp
ENST00000375128.4:c.759A>T	ENSP00000364270.4:p.Glu253Asp
ENST00000462523.5:c.*195A>T	ENSP00000433006.1:n.*195A>T
ENST00000485042.1:n.271A>T
NM_000380.3:c.759A>T , LRG_471t1:c.759A>T	NP_000371.1:p.Glu253Asp
NR_027302.1:n.1107A>T
XM_006717278.1:c.759A>T	XP_006717341.1:p.Glu253Asp
XM_011518988.1:c.759A>T	XP_011517290.1:p.Glu253Asp
XR_929839.1:n.1290A>T
NM_001354975.1:c.633A>T	NP_001341904.1:p.Glu211Asp
NR_149091.1:n.604A>T
NR_149092.1:n.770A>T
NR_149093.1:n.1296A>T
NR_149094.1:n.1190A>T
NM_000380.4:c.759A>T MANE Select	NP_000371.1:p.Glu253Asp
NM_001354975.2:c.633A>T	NP_001341904.1:p.Glu211Asp
NR_027302.2:n.1038A>T
NR_149091.2:n.535A>T
NR_149092.2:n.701A>T
NR_149093.2:n.1227A>T
NR_149094.2:n.1121A>T