Canonical Allele Identifier: CA466174844
Gene: XPA HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.100437859T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675577T>A , CM000671.2:g.97675577T>A GRCh38
NC_000009.11:g.100437859T>A , CM000671.1:g.100437859T>A GRCh37
NC_000009.10:g.99477680T>A NCBI36
NG_011642.1:g.26833A>T , LRG_471:g.26833A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.684A>T MANE Select ENSP00000364270.5:p.Arg228=
ENST00000375128.4:c.684A>T ENSP00000364270.4:p.Arg228=
ENST00000462523.5:c.*120A>T ENSP00000433006.1:n.*120A>T
ENST00000485042.1:n.196A>T
NM_000380.3:c.684A>T , LRG_471t1:c.684A>T NP_000371.1:p.Arg228=
NR_027302.1:n.1032A>T
XM_006717278.1:c.684A>T XP_006717341.1:p.Arg228=
XM_011518988.1:c.684A>T XP_011517290.1:p.Arg228=
XR_929839.1:n.1215A>T
NM_001354975.1:c.558A>T NP_001341904.1:p.Arg186=
NR_149091.1:n.529A>T
NR_149092.1:n.695A>T
NR_149093.1:n.1221A>T
NR_149094.1:n.1115A>T
NM_000380.4:c.684A>T MANE Select NP_000371.1:p.Arg228=
NM_001354975.2:c.558A>T NP_001341904.1:p.Arg186=
NR_027302.2:n.963A>T
NR_149091.2:n.460A>T
NR_149092.2:n.626A>T
NR_149093.2:n.1152A>T
NR_149094.2:n.1046A>T