Canonical Allele Identifier: CA406110759
Community Standard Title: NM_006494.4(ERF):c.739C>A (p.Pro247Thr)
Gene: ERF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42249373G>T , CM000681.2:g.42249373G>T GRCh38
NC_000019.9:g.42753525G>T , CM000681.1:g.42753525G>T GRCh37
NC_000019.8:g.47445365G>T NCBI36
NG_042802.1:g.10792C>A

Transcript Alleles

HGVS Amino-acid Change
NM_006494.4:c.739C>A MANE Select NP_006485.2:p.Pro247Thr
ENST00000222329.9:c.739C>A MANE Select ENSP00000222329.3:p.Pro247Thr
NM_001301035.1:c.514C>A NP_001287964.1:p.Pro172Thr
NM_001301035.2:c.514C>A NP_001287964.1:p.Pro172Thr
NM_001308402.1:c.514C>A NP_001295331.1:p.Pro172Thr
NM_001308402.2:c.514C>A NP_001295331.1:p.Pro172Thr
NM_001312656.1:c.514C>A NP_001299585.1:p.Pro172Thr
NM_001312656.2:c.514C>A NP_001299585.1:p.Pro172Thr
NM_006494.3:c.739C>A NP_006485.2:p.Pro247Thr
ENST00000222329.8:c.739C>A ENSP00000222329.3:p.Pro247Thr
ENST00000440177.6:c.514C>A ENSP00000388173.2:p.Pro172Thr
ENST00000594664.1:c.22+5605C>A ENSP00000470087.1:n.22+5605C>A
XM_011526612.1:c.514C>A XP_011524914.1:p.Pro172Thr
XM_011526613.1:c.514C>A XP_011524915.1:p.Pro172Thr
XM_017026468.1:c.514C>A XP_016881957.1:p.Pro172Thr
XM_017026469.1:c.514C>A XP_016881958.1:p.Pro172Thr