Canonical Allele Identifier: CA3057222433
Community Standard Title: NM_000551.4(VHL):c.158A= (p.Glu53=)
Gene: VHL HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142005A= , CM000665.2:g.10142005A= GRCh38
NC_000003.11:g.10183689A= , CM000665.1:g.10183689A= GRCh37
NC_000003.10:g.10158689A= NCBI36
NG_008212.3:g.5371A= , LRG_322:g.5371A=

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.158A= MANE Select NP_000542.1:p.Glu53=
ENST00000256474.3:c.158A= MANE Select ENSP00000256474.3:p.Glu53=
NM_000551.3:c.158A= , LRG_322t1:c.158A= NP_000542.1:p.Glu53=
NM_001354723.1:c.158A= NP_001341652.1:p.Glu53=
NM_001354723.2:c.158A= NP_001341652.1:p.Glu53=
NM_198156.2:c.158A= NP_937799.1:p.Glu53=
NM_198156.3:c.158A= NP_937799.1:p.Glu53=
ENST00000256474.2:c.158A= ENSP00000256474.2:p.Glu53=
ENST00000345392.2:c.158A= ENSP00000344757.2:p.Glu53=
ENST00000696142.1:c.158A= ENSP00000512434.1:p.Glu53=
ENST00000696143.1:c.158A= ENSP00000512435.1:p.Glu53=
ENST00000696153.1:c.158A= ENSP00000512444.1:p.Glu53=
XM_011534078.1:c.158A= XP_011532380.1:p.Glu53=
Search 100 bp 5'
Search 100 bp 3'