Canonical Allele Identifier: CA397560134
Community Standard Title: NM_002945.5(RPA1):c.808A>G (p.Thr270Ala)
Gene: RPA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1879263A>G , CM000679.2:g.1879263A>G GRCh38
NC_000017.10:g.1782557A>G , CM000679.1:g.1782557A>G GRCh37
NC_000017.9:g.1729307A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002945.5:c.808A>G MANE Select NP_002936.1:p.Thr270Ala
ENST00000254719.10:c.808A>G MANE Select ENSP00000254719.4:p.Thr270Ala
NM_001355120.1:c.769A>G NP_001342049.1:p.Thr257Ala
NM_001355120.2:c.769A>G NP_001342049.1:p.Thr257Ala
NM_001355121.1:c.808A>G NP_001342050.1:p.Thr270Ala
NM_001355121.2:c.808A>G NP_001342050.1:p.Thr270Ala
NM_002945.3:c.808A>G NP_002936.1:p.Thr270Ala
NM_002945.4:c.808A>G NP_002936.1:p.Thr270Ala
ENST00000254719.9:c.808A>G ENSP00000254719.4:p.Thr270Ala
ENST00000573924.1:n.532A>G
ENST00000574049.1:c.76A>G ENSP00000461466.1:p.Thr26Ala
XM_024450863.1:c.814A>G XP_024306631.1:p.Thr272Ala