Canonical Allele Identifier: CA9471336
Community Standard Title: NM_006494.4(ERF):c.762C>T (p.Ala254=)
Gene: ERF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42249350G>A , CM000681.2:g.42249350G>A GRCh38
NC_000019.9:g.42753502G>A , CM000681.1:g.42753502G>A GRCh37
NC_000019.8:g.47445342G>A NCBI36
NG_042802.1:g.10815C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006494.4:c.762C>T MANE Select NP_006485.2:p.Ala254=
ENST00000222329.9:c.762C>T MANE Select ENSP00000222329.3:p.Ala254=
NM_001301035.1:c.537C>T NP_001287964.1:p.Ala179=
NM_001301035.2:c.537C>T NP_001287964.1:p.Ala179=
NM_001308402.1:c.537C>T NP_001295331.1:p.Ala179=
NM_001308402.2:c.537C>T NP_001295331.1:p.Ala179=
NM_001312656.1:c.537C>T NP_001299585.1:p.Ala179=
NM_001312656.2:c.537C>T NP_001299585.1:p.Ala179=
NM_006494.3:c.762C>T NP_006485.2:p.Ala254=
ENST00000222329.8:c.762C>T ENSP00000222329.3:p.Ala254=
ENST00000440177.6:c.537C>T ENSP00000388173.2:p.Ala179=
ENST00000594664.1:c.22+5628C>T ENSP00000470087.1:n.22+5628C>T
XM_011526612.1:c.537C>T XP_011524914.1:p.Ala179=
XM_011526613.1:c.537C>T XP_011524915.1:p.Ala179=
XM_017026468.1:c.537C>T XP_016881957.1:p.Ala179=
XM_017026469.1:c.537C>T XP_016881958.1:p.Ala179=