Canonical Allele Identifier: CA466174815
Gene: XPA HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.100437802T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97675520T>C , CM000671.2:g.97675520T>C GRCh38
NC_000009.11:g.100437802T>C , CM000671.1:g.100437802T>C GRCh37
NC_000009.10:g.99477623T>C NCBI36
NG_011642.1:g.26890A>G , LRG_471:g.26890A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375128.5:c.741A>G MANE Select ENSP00000364270.5:p.Gly247=
ENST00000375128.4:c.741A>G ENSP00000364270.4:p.Gly247=
ENST00000462523.5:c.*177A>G ENSP00000433006.1:n.*177A>G
ENST00000485042.1:n.253A>G
NM_000380.3:c.741A>G , LRG_471t1:c.741A>G NP_000371.1:p.Gly247=
NR_027302.1:n.1089A>G
XM_006717278.1:c.741A>G XP_006717341.1:p.Gly247=
XM_011518988.1:c.741A>G XP_011517290.1:p.Gly247=
XR_929839.1:n.1272A>G
NM_001354975.1:c.615A>G NP_001341904.1:p.Gly205=
NR_149091.1:n.586A>G
NR_149092.1:n.752A>G
NR_149093.1:n.1278A>G
NR_149094.1:n.1172A>G
NM_000380.4:c.741A>G MANE Select NP_000371.1:p.Gly247=
NM_001354975.2:c.615A>G NP_001341904.1:p.Gly205=
NR_027302.2:n.1020A>G
NR_149091.2:n.517A>G
NR_149092.2:n.683A>G
NR_149093.2:n.1209A>G
NR_149094.2:n.1103A>G