Canonical Allele Identifier: CA374185556

Gene: XPA

Linked Data

• dbSNP Id: rs1455500049
• gnomAD v2: 9-100437864-G-A
• gnomAD v3: 9-97675582-G-A
• gnomAD v4: 9-97675582-G-A
• COSMIC: COSM4741675
• MyVariant Identifiers: chr9:g.100437864G>A (hg19) ; chr9:g.97675582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675582G>A , CM000671.2:g.97675582G>A	GRCh38
NC_000009.11:g.100437864G>A , CM000671.1:g.100437864G>A	GRCh37
NC_000009.10:g.99477685G>A	NCBI36
NG_011642.1:g.26828C>T , LRG_471:g.26828C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.679C>T MANE Select	ENSP00000364270.5:p.Arg227Trp
ENST00000375128.4:c.679C>T	ENSP00000364270.4:p.Arg227Trp
ENST00000462523.5:c.*115C>T	ENSP00000433006.1:n.*115C>T
ENST00000485042.1:n.191C>T
NM_000380.3:c.679C>T , LRG_471t1:c.679C>T	NP_000371.1:p.Arg227Trp
NR_027302.1:n.1027C>T
XM_006717278.1:c.679C>T	XP_006717341.1:p.Arg227Trp
XM_011518988.1:c.679C>T	XP_011517290.1:p.Arg227Trp
XR_929839.1:n.1210C>T
NM_001354975.1:c.553C>T	NP_001341904.1:p.Arg185Trp
NR_149091.1:n.524C>T
NR_149092.1:n.690C>T
NR_149093.1:n.1216C>T
NR_149094.1:n.1110C>T
NM_000380.4:c.679C>T MANE Select	NP_000371.1:p.Arg227Trp
NM_001354975.2:c.553C>T	NP_001341904.1:p.Arg185Trp
NR_027302.2:n.958C>T
NR_149091.2:n.455C>T
NR_149092.2:n.621C>T
NR_149093.2:n.1147C>T
NR_149094.2:n.1041C>T