Canonical Allele Identifier: CA374185544

Gene: XPA

Linked Data

• gnomAD v4: 9-97675575-G-A
• MyVariant Identifiers: chr9:g.100437857G>A (hg19) ; chr9:g.97675575G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675575G>A , CM000671.2:g.97675575G>A	GRCh38
NC_000009.11:g.100437857G>A , CM000671.1:g.100437857G>A	GRCh37
NC_000009.10:g.99477678G>A	NCBI36
NG_011642.1:g.26835C>T , LRG_471:g.26835C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.686C>T MANE Select	ENSP00000364270.5:p.Ala229Val
ENST00000375128.4:c.686C>T	ENSP00000364270.4:p.Ala229Val
ENST00000462523.5:c.*122C>T	ENSP00000433006.1:n.*122C>T
ENST00000485042.1:n.198C>T
NM_000380.3:c.686C>T , LRG_471t1:c.686C>T	NP_000371.1:p.Ala229Val
NR_027302.1:n.1034C>T
XM_006717278.1:c.686C>T	XP_006717341.1:p.Ala229Val
XM_011518988.1:c.686C>T	XP_011517290.1:p.Ala229Val
XR_929839.1:n.1217C>T
NM_001354975.1:c.560C>T	NP_001341904.1:p.Ala187Val
NR_149091.1:n.531C>T
NR_149092.1:n.697C>T
NR_149093.1:n.1223C>T
NR_149094.1:n.1117C>T
NM_000380.4:c.686C>T MANE Select	NP_000371.1:p.Ala229Val
NM_001354975.2:c.560C>T	NP_001341904.1:p.Ala187Val
NR_027302.2:n.965C>T
NR_149091.2:n.462C>T
NR_149092.2:n.628C>T
NR_149093.2:n.1154C>T
NR_149094.2:n.1048C>T