Canonical Allele Identifier: CA374187003
Community Standard Title: NM_000380.4(XPA):c.619C>G (p.Arg207Gly)
Gene: XPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97684977G>C , CM000671.2:g.97684977G>C GRCh38
NC_000009.11:g.100447259G>C , CM000671.1:g.100447259G>C GRCh37
NC_000009.10:g.99487080G>C NCBI36
NG_011642.1:g.17433C>G , LRG_471:g.17433C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000380.4:c.619C>G MANE Select NP_000371.1:p.Arg207Gly
ENST00000375128.5:c.619C>G MANE Select ENSP00000364270.5:p.Arg207Gly
NM_000380.3:c.619C>G , LRG_471t1:c.619C>G NP_000371.1:p.Arg207Gly
NM_001354975.1:c.493C>G NP_001341904.1:p.Arg165Gly
NM_001354975.2:c.493C>G NP_001341904.1:p.Arg165Gly
NR_027302.1:n.736C>G
NR_027302.2:n.667C>G
NR_149091.1:n.464C>G
NR_149091.2:n.395C>G
NR_149092.1:n.630C>G
NR_149092.2:n.561C>G
NR_149093.1:n.736C>G
NR_149093.2:n.667C>G
NR_149094.1:n.630C>G
NR_149094.2:n.561C>G
ENST00000375128.4:c.619C>G ENSP00000364270.4:p.Arg207Gly
ENST00000462523.5:c.619C>G ENSP00000433006.1:p.Arg207Gly
ENST00000496104.1:n.413C>G
XM_006717278.1:c.619C>G XP_006717341.1:p.Arg207Gly
XM_011518988.1:c.619C>G XP_011517290.1:p.Arg207Gly
XR_929839.1:n.730C>G