Canonical Allele Identifier: CA5148651

Gene: XPA

Linked Data

• dbSNP Id: rs766015657
• ExAC: 9:100437665 T / C
• gnomAD v3: 9-97675383-T-C
• gnomAD v4: 9-97675383-T-C
• MyVariant Identifiers: chr9:g.100437665T>C (hg19) ; chr9:g.97675383T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675383T>C , CM000671.2:g.97675383T>C	GRCh38
NC_000009.11:g.100437665T>C , CM000671.1:g.100437665T>C	GRCh37
NC_000009.10:g.99477486T>C	NCBI36
NG_011642.1:g.27027A>G , LRG_471:g.27027A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*56A>G MANE Select	ENSP00000364270.5:n.*56A>G
ENST00000375128.4:c.*56A>G	ENSP00000364270.4:n.*56A>G
ENST00000462523.5:c.*314A>G	ENSP00000433006.1:n.*314A>G
ENST00000485042.1:n.390A>G
NM_000380.3:c.*56A>G , LRG_471t1:c.*56A>G	NP_000371.1:n.*56A>G
NR_027302.1:n.1226A>G
XM_006717278.1:c.772+106A>G	XP_006717341.1:n.772+106A>G
XM_011518988.1:c.772+106A>G	XP_011517290.1:n.772+106A>G
NM_001354975.1:c.*56A>G	NP_001341904.1:n.*56A>G
NR_149091.1:n.723A>G
NR_149092.1:n.889A>G
NR_149093.1:n.1415A>G
NR_149094.1:n.1309A>G
NM_000380.4:c.*56A>G MANE Select	NP_000371.1:n.*56A>G
NM_001354975.2:c.*56A>G	NP_001341904.1:n.*56A>G
NR_027302.2:n.1157A>G
NR_149091.2:n.654A>G
NR_149092.2:n.820A>G
NR_149093.2:n.1346A>G
NR_149094.2:n.1240A>G