Canonical Allele Identifier: CA658821481

Gene: XPA

Linked Data

• ClinVar Variation Id: 552532
• ClinVar RCV Id: RCV000667814 ; RCV001388621
• dbSNP Id: rs1554699296
• gnomAD v4: 9-97675528-C-CA
• MyVariant Identifiers: chr9:g.97675529dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675529dup , CM000671.2:g.97675529dup	GRCh38
NC_000009.11:g.100437811dup , CM000671.1:g.100437811dup	GRCh37
NC_000009.10:g.99477632dup	NCBI36
NG_011642.1:g.26881dup , LRG_471:g.26881dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.732dup MANE Select	ENSP00000364270.5:p.Glu245Ter
ENST00000375128.4:c.732dup	ENSP00000364270.4:p.Glu245Ter
ENST00000462523.5:c.*168dup	ENSP00000433006.1:n.*168dup
ENST00000485042.1:n.244dup
NM_000380.3:c.732dup , LRG_471t1:c.732dup	NP_000371.1:p.Glu245Ter
NR_027302.1:n.1080dup
XM_006717278.1:c.732dup	XP_006717341.1:p.Glu245Ter
XM_011518988.1:c.732dup	XP_011517290.1:p.Glu245Ter
XR_929839.1:n.1263dup
NM_001354975.1:c.606dup	NP_001341904.1:p.Glu203Ter
NR_149091.1:n.577dup
NR_149092.1:n.743dup
NR_149093.1:n.1269dup
NR_149094.1:n.1163dup
NM_000380.4:c.732dup MANE Select	NP_000371.1:p.Glu245Ter
NM_001354975.2:c.606dup	NP_001341904.1:p.Glu203Ter
NR_027302.2:n.1011dup
NR_149091.2:n.508dup
NR_149092.2:n.674dup
NR_149093.2:n.1200dup
NR_149094.2:n.1094dup