Canonical Allele Identifier: CA2579395749

Gene: XPA

Linked Data

• gnomAD v4: 9-97675361-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675361T>G , CM000671.2:g.97675361T>G	GRCh38
NC_000009.11:g.100437643T>G , CM000671.1:g.100437643T>G	GRCh37
NC_000009.10:g.99477464T>G	NCBI36
NG_011642.1:g.27049A>C , LRG_471:g.27049A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*78A>C MANE Select	ENSP00000364270.5:n.*78A>C
ENST00000375128.4:c.*78A>C	ENSP00000364270.4:n.*78A>C
ENST00000462523.5:c.*336A>C	ENSP00000433006.1:n.*336A>C
ENST00000485042.1:n.412A>C
NM_000380.3:c.*78A>C , LRG_471t1:c.*78A>C	NP_000371.1:n.*78A>C
NR_027302.1:n.1248A>C
XM_006717278.1:c.772+128A>C	XP_006717341.1:n.772+128A>C
XM_011518988.1:c.772+128A>C	XP_011517290.1:n.772+128A>C
NM_001354975.1:c.*78A>C	NP_001341904.1:n.*78A>C
NR_149091.1:n.745A>C
NR_149092.1:n.911A>C
NR_149093.1:n.1437A>C
NR_149094.1:n.1331A>C
NM_000380.4:c.*78A>C MANE Select	NP_000371.1:n.*78A>C
NM_001354975.2:c.*78A>C	NP_001341904.1:n.*78A>C
NR_027302.2:n.1179A>C
NR_149091.2:n.676A>C
NR_149092.2:n.842A>C
NR_149093.2:n.1368A>C
NR_149094.2:n.1262A>C