Canonical Allele Identifier: CA2690901742

Gene: XPA

Linked Data

• gnomAD v4: 9-97675715-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675715T>C , CM000671.2:g.97675715T>C	GRCh38
NC_000009.11:g.100437997T>C , CM000671.1:g.100437997T>C	GRCh37
NC_000009.10:g.99477818T>C	NCBI36
NG_011642.1:g.26695A>G , LRG_471:g.26695A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.674-128A>G MANE Select	ENSP00000364270.5:n.674-128A>G
ENST00000375128.4:c.674-128A>G	ENSP00000364270.4:n.674-128A>G
ENST00000462523.5:c.*110-128A>G	ENSP00000433006.1:n.*110-128A>G
ENST00000485042.1:n.185+56A>G
NM_000380.3:c.674-128A>G , LRG_471t1:c.674-128A>G	NP_000371.1:n.674-128A>G
NR_027302.1:n.1022-128A>G
XM_006717278.1:c.674-128A>G	XP_006717341.1:n.674-128A>G
XM_011518988.1:c.674-128A>G	XP_011517290.1:n.674-128A>G
XR_929839.1:n.1204+56A>G
NM_001354975.1:c.548-128A>G	NP_001341904.1:n.548-128A>G
NR_149091.1:n.519-128A>G
NR_149092.1:n.685-128A>G
NR_149093.1:n.1210+56A>G
NR_149094.1:n.1104+56A>G
NM_000380.4:c.674-128A>G MANE Select	NP_000371.1:n.674-128A>G
NM_001354975.2:c.548-128A>G	NP_001341904.1:n.548-128A>G
NR_027302.2:n.953-128A>G
NR_149091.2:n.450-128A>G
NR_149092.2:n.616-128A>G
NR_149093.2:n.1141+56A>G
NR_149094.2:n.1035+56A>G