Canonical Allele Identifier: CA2690901733

Gene: XPA

Linked Data

• gnomAD v4: 9-97675704-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675704C>T , CM000671.2:g.97675704C>T	GRCh38
NC_000009.11:g.100437986C>T , CM000671.1:g.100437986C>T	GRCh37
NC_000009.10:g.99477807C>T	NCBI36
NG_011642.1:g.26706G>A , LRG_471:g.26706G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-117G>A MANE Select	ENSP00000364270.5:n.674-117G>A
ENST00000375128.4:c.674-117G>A	ENSP00000364270.4:n.674-117G>A
ENST00000462523.5:c.*110-117G>A	ENSP00000433006.1:n.*110-117G>A
ENST00000485042.1:n.185+67G>A
NM_000380.3:c.674-117G>A , LRG_471t1:c.674-117G>A	NP_000371.1:n.674-117G>A
NR_027302.1:n.1022-117G>A
XM_006717278.1:c.674-117G>A	XP_006717341.1:n.674-117G>A
XM_011518988.1:c.674-117G>A	XP_011517290.1:n.674-117G>A
XR_929839.1:n.1204+67G>A
NM_001354975.1:c.548-117G>A	NP_001341904.1:n.548-117G>A
NR_149091.1:n.519-117G>A
NR_149092.1:n.685-117G>A
NR_149093.1:n.1210+67G>A
NR_149094.1:n.1104+67G>A
NM_000380.4:c.674-117G>A MANE Select	NP_000371.1:n.674-117G>A
NM_001354975.2:c.548-117G>A	NP_001341904.1:n.548-117G>A
NR_027302.2:n.953-117G>A
NR_149091.2:n.450-117G>A
NR_149092.2:n.616-117G>A
NR_149093.2:n.1141+67G>A
NR_149094.2:n.1035+67G>A