Canonical Allele Identifier: CA3057222432
Community Standard Title: NM_000551.4(VHL):c.157G= (p.Glu53=)
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142004G= , CM000665.2:g.10142004G= GRCh38
NC_000003.11:g.10183688G= , CM000665.1:g.10183688G= GRCh37
NC_000003.10:g.10158688G= NCBI36
NG_008212.3:g.5370G= , LRG_322:g.5370G=

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.157G= MANE Select NP_000542.1:p.Glu53=
ENST00000256474.3:c.157G= MANE Select ENSP00000256474.3:p.Glu53=
NM_000551.3:c.157G= , LRG_322t1:c.157G= NP_000542.1:p.Glu53=
NM_001354723.1:c.157G= NP_001341652.1:p.Glu53=
NM_001354723.2:c.157G= NP_001341652.1:p.Glu53=
NM_198156.2:c.157G= NP_937799.1:p.Glu53=
NM_198156.3:c.157G= NP_937799.1:p.Glu53=
ENST00000256474.2:c.157G= ENSP00000256474.2:p.Glu53=
ENST00000345392.2:c.157G= ENSP00000344757.2:p.Glu53=
ENST00000696142.1:c.157G= ENSP00000512434.1:p.Glu53=
ENST00000696143.1:c.157G= ENSP00000512435.1:p.Glu53=
ENST00000696153.1:c.157G= ENSP00000512444.1:p.Glu53=
XM_011534078.1:c.157G= XP_011532380.1:p.Glu53=
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