Canonical Allele Identifier: CA374621235
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114408011A>G , CM000671.2:g.114408011A>G GRCh38
NC_000009.11:g.117170291A>G , CM000671.1:g.117170291A>G GRCh37
NC_000009.10:g.116210112A>G NCBI36
NG_016700.1:g.102446T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000362057.4:c.1634T>C MANE Select ENSP00000354623.3:p.Leu545Pro
ENST00000673811.1:n.2358T>C
ENST00000674036.8:c.607T>C
ENST00000674048.1:n.1515T>C
ENST00000265134.10:c.485T>C ENSP00000265134.6:p.Leu162Pro
ENST00000362057.3:c.1634T>C ENSP00000354623.3:p.Leu545Pro
ENST00000374059.7:c.581T>C ENSP00000363172.3:p.Leu194Pro
NM_001083885.2:c.485T>C NP_001077354.2:p.Leu162Pro
NM_001173425.1:c.1634T>C NP_001166896.1:p.Leu545Pro
NM_015404.3:c.1634T>C NP_056219.3:p.Leu545Pro
XM_005251897.3:c.971T>C XP_005251954.2:p.Leu324Pro
XM_011518484.1:c.1667T>C XP_011516786.1:p.Leu556Pro
XM_011518485.1:c.1667T>C XP_011516787.1:p.Leu556Pro
XM_011518486.1:c.1667T>C XP_011516788.1:p.Leu556Pro
XM_011518487.1:c.1541T>C XP_011516789.1:p.Leu514Pro
XM_011518488.1:c.1424T>C XP_011516790.1:p.Leu475Pro
XM_011518492.1:c.*19T>C XP_011516794.1:n.*19T>C
XM_011518495.1:c.344T>C XP_011516797.1:p.Leu115Pro
XR_929747.1:n.2571T>C
XR_929748.1:n.2469T>C
XR_929750.1:n.2570T>C
XR_929751.1:n.2477T>C
XR_929757.1:n.2444T>C
NM_001346890.1:c.581T>C NP_001333819.1:p.Leu194Pro
XM_011518486.2:c.1667T>C XP_011516788.1:p.Leu556Pro
XM_011518487.2:c.1541T>C XP_011516789.1:p.Leu514Pro
XM_011518488.2:c.1424T>C XP_011516790.1:p.Leu475Pro
XM_011518492.2:c.*19T>C XP_011516794.1:n.*19T>C
XR_929747.2:n.1882T>C
XR_929748.2:n.1780T>C
XR_929750.3:n.1881T>C
XR_929757.2:n.1755T>C
NM_015404.4:c.1634T>C MANE Select NP_056219.3:p.Leu545Pro
NM_001173425.2:c.1634T>C NP_001166896.1:p.Leu545Pro
NM_001083885.3:c.485T>C NP_001077354.2:p.Leu162Pro