Canonical Allele Identifier: CA466174837

Gene: XPA

Linked Data

• ClinVar Variation Id: 1124435
• ClinVar RCV Id: RCV001455792
• dbSNP Id: rs2131379210
• MyVariant Identifiers: chr9:g.100437853T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97675571T>A , CM000671.2:g.97675571T>A	GRCh38
NC_000009.11:g.100437853T>A , CM000671.1:g.100437853T>A	GRCh37
NC_000009.10:g.99477674T>A	NCBI36
NG_011642.1:g.26839A>T , LRG_471:g.26839A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375128.5:c.690A>T MANE Select	ENSP00000364270.5:p.Val230=
ENST00000375128.4:c.690A>T	ENSP00000364270.4:p.Val230=
ENST00000462523.5:c.*126A>T	ENSP00000433006.1:n.*126A>T
ENST00000485042.1:n.202A>T
NM_000380.3:c.690A>T , LRG_471t1:c.690A>T	NP_000371.1:p.Val230=
NR_027302.1:n.1038A>T
XM_006717278.1:c.690A>T	XP_006717341.1:p.Val230=
XM_011518988.1:c.690A>T	XP_011517290.1:p.Val230=
XR_929839.1:n.1221A>T
NM_001354975.1:c.564A>T	NP_001341904.1:p.Val188=
NR_149091.1:n.535A>T
NR_149092.1:n.701A>T
NR_149093.1:n.1227A>T
NR_149094.1:n.1121A>T
NM_000380.4:c.690A>T MANE Select	NP_000371.1:p.Val230=
NM_001354975.2:c.564A>T	NP_001341904.1:p.Val188=
NR_027302.2:n.969A>T
NR_149091.2:n.466A>T
NR_149092.2:n.632A>T
NR_149093.2:n.1158A>T
NR_149094.2:n.1052A>T