Canonical Allele Identifier: CA2690901688

Gene: XPA

Linked Data

• gnomAD v4: 9-97675433-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675433A>G , CM000671.2:g.97675433A>G	GRCh38
NC_000009.11:g.100437715A>G , CM000671.1:g.100437715A>G	GRCh37
NC_000009.10:g.99477536A>G	NCBI36
NG_011642.1:g.26977T>C , LRG_471:g.26977T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*6T>C MANE Select	ENSP00000364270.5:n.*6T>C
ENST00000375128.4:c.*6T>C	ENSP00000364270.4:n.*6T>C
ENST00000462523.5:c.*264T>C	ENSP00000433006.1:n.*264T>C
ENST00000485042.1:n.340T>C
NM_000380.3:c.*6T>C , LRG_471t1:c.*6T>C	NP_000371.1:n.*6T>C
NR_027302.1:n.1176T>C
XM_006717278.1:c.772+56T>C	XP_006717341.1:n.772+56T>C
XM_011518988.1:c.772+56T>C	XP_011517290.1:n.772+56T>C
NM_001354975.1:c.*6T>C	NP_001341904.1:n.*6T>C
NR_149091.1:n.673T>C
NR_149092.1:n.839T>C
NR_149093.1:n.1365T>C
NR_149094.1:n.1259T>C
NM_000380.4:c.*6T>C MANE Select	NP_000371.1:n.*6T>C
NM_001354975.2:c.*6T>C	NP_001341904.1:n.*6T>C
NR_027302.2:n.1107T>C
NR_149091.2:n.604T>C
NR_149092.2:n.770T>C
NR_149093.2:n.1296T>C
NR_149094.2:n.1190T>C