Canonical Allele Identifier: CA2690901653

Gene: XPA

Linked Data

• gnomAD v4: 9-97675362-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675362G>C , CM000671.2:g.97675362G>C	GRCh38
NC_000009.11:g.100437644G>C , CM000671.1:g.100437644G>C	GRCh37
NC_000009.10:g.99477465G>C	NCBI36
NG_011642.1:g.27048C>G , LRG_471:g.27048C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.*77C>G MANE Select	ENSP00000364270.5:n.*77C>G
ENST00000375128.4:c.*77C>G	ENSP00000364270.4:n.*77C>G
ENST00000462523.5:c.*335C>G	ENSP00000433006.1:n.*335C>G
ENST00000485042.1:n.411C>G
NM_000380.3:c.*77C>G , LRG_471t1:c.*77C>G	NP_000371.1:n.*77C>G
NR_027302.1:n.1247C>G
XM_006717278.1:c.772+127C>G	XP_006717341.1:n.772+127C>G
XM_011518988.1:c.772+127C>G	XP_011517290.1:n.772+127C>G
NM_001354975.1:c.*77C>G	NP_001341904.1:n.*77C>G
NR_149091.1:n.744C>G
NR_149092.1:n.910C>G
NR_149093.1:n.1436C>G
NR_149094.1:n.1330C>G
NM_000380.4:c.*77C>G MANE Select	NP_000371.1:n.*77C>G
NM_001354975.2:c.*77C>G	NP_001341904.1:n.*77C>G
NR_027302.2:n.1178C>G
NR_149091.2:n.675C>G
NR_149092.2:n.841C>G
NR_149093.2:n.1367C>G
NR_149094.2:n.1261C>G