Canonical Allele Identifier: CA2989078765
Community Standard Title: NM_000551.4(VHL):c.-65T>A
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141783T>A , CM000665.2:g.10141783T>A GRCh38
NC_000003.11:g.10183467T>A , CM000665.1:g.10183467T>A GRCh37
NC_000003.10:g.10158467T>A NCBI36
NG_008212.3:g.5149T>A , LRG_322:g.5149T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000551.4:c.-65T>A MANE Select NP_000542.1:n.-65T>A
ENST00000256474.3:c.-65T>A MANE Select ENSP00000256474.3:n.-65T>A
NM_000551.3:c.-65T>A , LRG_322t1:c.-65T>A NP_000542.1:n.-65T>A
NM_001354723.1:c.-65T>A NP_001341652.1:n.-65T>A
NM_001354723.2:c.-65T>A NP_001341652.1:n.-65T>A
NM_198156.2:c.-65T>A NP_937799.1:n.-65T>A
NM_198156.3:c.-65T>A NP_937799.1:n.-65T>A
ENST00000256474.2:c.-65T>A ENSP00000256474.2:n.-65T>A
ENST00000696153.1:c.-65T>A ENSP00000512444.1:n.-65T>A
XM_011534078.1:c.-65T>A XP_011532380.1:n.-65T>A
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