Canonical Allele Identifier: CA374621161
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114407975T>G , CM000671.2:g.114407975T>G GRCh38
NC_000009.11:g.117170255T>G , CM000671.1:g.117170255T>G GRCh37
NC_000009.10:g.116210076T>G NCBI36
NG_016700.1:g.102482A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000362057.4:c.1670A>C MANE Select ENSP00000354623.3:p.Asn557Thr
ENST00000673811.1:n.2394A>C
ENST00000674036.8:c.643A>C
ENST00000674048.1:n.1551A>C
ENST00000265134.10:c.521A>C ENSP00000265134.6:p.Asn174Thr
ENST00000362057.3:c.1670A>C ENSP00000354623.3:p.Asn557Thr
ENST00000374059.7:c.617A>C ENSP00000363172.3:p.Asn206Thr
NM_001083885.2:c.521A>C NP_001077354.2:p.Asn174Thr
NM_001173425.1:c.1670A>C NP_001166896.1:p.Asn557Thr
NM_015404.3:c.1670A>C NP_056219.3:p.Asn557Thr
XM_005251897.3:c.1007A>C XP_005251954.2:p.Asn336Thr
XM_011518484.1:c.1703A>C XP_011516786.1:p.Asn568Thr
XM_011518485.1:c.1703A>C XP_011516787.1:p.Asn568Thr
XM_011518486.1:c.1703A>C XP_011516788.1:p.Asn568Thr
XM_011518487.1:c.1577A>C XP_011516789.1:p.Asn526Thr
XM_011518488.1:c.1460A>C XP_011516790.1:p.Asn487Thr
XM_011518492.1:c.*55A>C XP_011516794.1:n.*55A>C
XM_011518495.1:c.380A>C XP_011516797.1:p.Asn127Thr
XR_929747.1:n.2607A>C
XR_929748.1:n.2505A>C
XR_929750.1:n.2606A>C
XR_929751.1:n.2513A>C
XR_929757.1:n.2480A>C
NM_001346890.1:c.617A>C NP_001333819.1:p.Asn206Thr
XM_011518486.2:c.1703A>C XP_011516788.1:p.Asn568Thr
XM_011518487.2:c.1577A>C XP_011516789.1:p.Asn526Thr
XM_011518488.2:c.1460A>C XP_011516790.1:p.Asn487Thr
XM_011518492.2:c.*55A>C XP_011516794.1:n.*55A>C
XR_929747.2:n.1918A>C
XR_929748.2:n.1816A>C
XR_929750.3:n.1917A>C
XR_929757.2:n.1791A>C
NM_015404.4:c.1670A>C MANE Select NP_056219.3:p.Asn557Thr
NM_001173425.2:c.1670A>C NP_001166896.1:p.Asn557Thr
NM_001083885.3:c.521A>C NP_001077354.2:p.Asn174Thr