Canonical Allele Identifier: CA466174820
Gene: XPA HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.100437811A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675529A>G , CM000671.2:g.97675529A>G GRCh38
NC_000009.11:g.100437811A>G , CM000671.1:g.100437811A>G GRCh37
NC_000009.10:g.99477632A>G NCBI36
NG_011642.1:g.26881T>C , LRG_471:g.26881T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.732T>C MANE Select ENSP00000364270.5:p.His244=
ENST00000375128.4:c.732T>C ENSP00000364270.4:p.His244=
ENST00000462523.5:c.*168T>C ENSP00000433006.1:n.*168T>C
ENST00000485042.1:n.244T>C
NM_000380.3:c.732T>C , LRG_471t1:c.732T>C NP_000371.1:p.His244=
NR_027302.1:n.1080T>C
XM_006717278.1:c.732T>C XP_006717341.1:p.His244=
XM_011518988.1:c.732T>C XP_011517290.1:p.His244=
XR_929839.1:n.1263T>C
NM_001354975.1:c.606T>C NP_001341904.1:p.His202=
NR_149091.1:n.577T>C
NR_149092.1:n.743T>C
NR_149093.1:n.1269T>C
NR_149094.1:n.1163T>C
NM_000380.4:c.732T>C MANE Select NP_000371.1:p.His244=
NM_001354975.2:c.606T>C NP_001341904.1:p.His202=
NR_027302.2:n.1011T>C
NR_149091.2:n.508T>C
NR_149092.2:n.674T>C
NR_149093.2:n.1200T>C
NR_149094.2:n.1094T>C