Canonical Allele Identifier: CA406108452
Community Standard Title: NM_006494.4(ERF):c.1051C>G (p.Pro351Ala)
Gene: ERF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42249061G>C , CM000681.2:g.42249061G>C GRCh38
NC_000019.9:g.42753213G>C , CM000681.1:g.42753213G>C GRCh37
NC_000019.8:g.47445053G>C NCBI36
NG_042802.1:g.11104C>G

Transcript Alleles

HGVS Amino-acid Change
NM_006494.4:c.1051C>G MANE Select NP_006485.2:p.Pro351Ala
ENST00000222329.9:c.1051C>G MANE Select ENSP00000222329.3:p.Pro351Ala
NM_001301035.1:c.826C>G NP_001287964.1:p.Pro276Ala
NM_001301035.2:c.826C>G NP_001287964.1:p.Pro276Ala
NM_001308402.1:c.826C>G NP_001295331.1:p.Pro276Ala
NM_001308402.2:c.826C>G NP_001295331.1:p.Pro276Ala
NM_001312656.1:c.826C>G NP_001299585.1:p.Pro276Ala
NM_001312656.2:c.826C>G NP_001299585.1:p.Pro276Ala
NM_006494.3:c.1051C>G NP_006485.2:p.Pro351Ala
ENST00000222329.8:c.1051C>G ENSP00000222329.3:p.Pro351Ala
ENST00000440177.6:c.826C>G ENSP00000388173.2:p.Pro276Ala
ENST00000594664.1:c.22+5917C>G ENSP00000470087.1:n.22+5917C>G
XM_011526612.1:c.826C>G XP_011524914.1:p.Pro276Ala
XM_011526613.1:c.826C>G XP_011524915.1:p.Pro276Ala
XM_017026468.1:c.826C>G XP_016881957.1:p.Pro276Ala
XM_017026469.1:c.826C>G XP_016881958.1:p.Pro276Ala