Canonical Allele Identifier: CA868996341

Gene: XPA

Linked Data

• dbSNP Id: rs1214507991
• gnomAD v3: 9-97675793-C-T
• gnomAD v4: 9-97675793-C-T
• MyVariant Identifiers: chr9:g.100438075C>T (hg19) ; chr9:g.97675793C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675793C>T , CM000671.2:g.97675793C>T	GRCh38
NC_000009.11:g.100438075C>T , CM000671.1:g.100438075C>T	GRCh37
NC_000009.10:g.99477896C>T	NCBI36
NG_011642.1:g.26617G>A , LRG_471:g.26617G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-206G>A MANE Select	ENSP00000364270.5:n.674-206G>A
ENST00000375128.4:c.674-206G>A	ENSP00000364270.4:n.674-206G>A
ENST00000462523.5:c.*110-206G>A	ENSP00000433006.1:n.*110-206G>A
ENST00000485042.1:n.163G>A
NM_000380.3:c.674-206G>A , LRG_471t1:c.674-206G>A	NP_000371.1:n.674-206G>A
NR_027302.1:n.1022-206G>A
XM_006717278.1:c.674-206G>A	XP_006717341.1:n.674-206G>A
XM_011518988.1:c.674-206G>A	XP_011517290.1:n.674-206G>A
XR_929839.1:n.1182G>A
NM_001354975.1:c.548-206G>A	NP_001341904.1:n.548-206G>A
NR_149091.1:n.519-206G>A
NR_149092.1:n.685-206G>A
NR_149093.1:n.1188G>A
NR_149094.1:n.1082G>A
NM_000380.4:c.674-206G>A MANE Select	NP_000371.1:n.674-206G>A
NM_001354975.2:c.548-206G>A	NP_001341904.1:n.548-206G>A
NR_027302.2:n.953-206G>A
NR_149091.2:n.450-206G>A
NR_149092.2:n.616-206G>A
NR_149093.2:n.1119G>A
NR_149094.2:n.1013G>A