Canonical Allele Identifier: CA249528
Gene: ERF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42249565G>A , CM000681.2:g.42249565G>A GRCh38
NC_000019.9:g.42753717G>A , CM000681.1:g.42753717G>A GRCh37
NC_000019.8:g.47445557G>A NCBI36
NG_042802.1:g.10600C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006494.4:c.547C>T MANE Select NP_006485.2:p.Arg183Ter
ENST00000222329.9:c.547C>T MANE Select ENSP00000222329.3:p.Arg183Ter
NM_001301035.1:c.322C>T NP_001287964.1:p.Arg108Ter
NM_001301035.2:c.322C>T NP_001287964.1:p.Arg108Ter
NM_001308402.1:c.322C>T NP_001295331.1:p.Arg108Ter
NM_001308402.2:c.322C>T NP_001295331.1:p.Arg108Ter
NM_001312656.1:c.322C>T NP_001299585.1:p.Arg108Ter
NM_001312656.2:c.322C>T NP_001299585.1:p.Arg108Ter
NM_006494.3:c.547C>T NP_006485.2:p.Arg183Ter
ENST00000222329.8:c.547C>T ENSP00000222329.3:p.Arg183Ter
ENST00000440177.6:c.322C>T ENSP00000388173.2:p.Arg108Ter
ENST00000594664.1:c.22+5413C>T ENSP00000470087.1:n.22+5413C>T
ENST00000595448.1:n.520C>T
XM_011526612.1:c.322C>T XP_011524914.1:p.Arg108Ter
XM_011526613.1:c.322C>T XP_011524915.1:p.Arg108Ter
XM_017026468.1:c.322C>T XP_016881957.1:p.Arg108Ter
XM_017026469.1:c.322C>T XP_016881958.1:p.Arg108Ter