Canonical Allele Identifier: CA2690901658

Gene: XPA

Linked Data

• gnomAD v4: 9-97675373-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675373A>G , CM000671.2:g.97675373A>G	GRCh38
NC_000009.11:g.100437655A>G , CM000671.1:g.100437655A>G	GRCh37
NC_000009.10:g.99477476A>G	NCBI36
NG_011642.1:g.27037T>C , LRG_471:g.27037T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*66T>C MANE Select	ENSP00000364270.5:n.*66T>C
ENST00000375128.4:c.*66T>C	ENSP00000364270.4:n.*66T>C
ENST00000462523.5:c.*324T>C	ENSP00000433006.1:n.*324T>C
ENST00000485042.1:n.400T>C
NM_000380.3:c.*66T>C , LRG_471t1:c.*66T>C	NP_000371.1:n.*66T>C
NR_027302.1:n.1236T>C
XM_006717278.1:c.772+116T>C	XP_006717341.1:n.772+116T>C
XM_011518988.1:c.772+116T>C	XP_011517290.1:n.772+116T>C
NM_001354975.1:c.*66T>C	NP_001341904.1:n.*66T>C
NR_149091.1:n.733T>C
NR_149092.1:n.899T>C
NR_149093.1:n.1425T>C
NR_149094.1:n.1319T>C
NM_000380.4:c.*66T>C MANE Select	NP_000371.1:n.*66T>C
NM_001354975.2:c.*66T>C	NP_001341904.1:n.*66T>C
NR_027302.2:n.1167T>C
NR_149091.2:n.664T>C
NR_149092.2:n.830T>C
NR_149093.2:n.1356T>C
NR_149094.2:n.1250T>C