Canonical Allele Identifier: CA374621148
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114407969T>A , CM000671.2:g.114407969T>A GRCh38
NC_000009.11:g.117170249T>A , CM000671.1:g.117170249T>A GRCh37
NC_000009.10:g.116210070T>A NCBI36
NG_016700.1:g.102488A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000362057.4:c.1676A>T MANE Select ENSP00000354623.3:p.Asn559Ile
ENST00000673811.1:n.2400A>T
ENST00000674036.8:c.649A>T
ENST00000674048.1:n.1557A>T
ENST00000265134.10:c.527A>T ENSP00000265134.6:p.Asn176Ile
ENST00000362057.3:c.1676A>T ENSP00000354623.3:p.Asn559Ile
ENST00000374059.7:c.623A>T ENSP00000363172.3:p.Asn208Ile
NM_001083885.2:c.527A>T NP_001077354.2:p.Asn176Ile
NM_001173425.1:c.1676A>T NP_001166896.1:p.Asn559Ile
NM_015404.3:c.1676A>T NP_056219.3:p.Asn559Ile
XM_005251897.3:c.1013A>T XP_005251954.2:p.Asn338Ile
XM_011518484.1:c.1709A>T XP_011516786.1:p.Asn570Ile
XM_011518485.1:c.1709A>T XP_011516787.1:p.Asn570Ile
XM_011518486.1:c.1709A>T XP_011516788.1:p.Asn570Ile
XM_011518487.1:c.1583A>T XP_011516789.1:p.Asn528Ile
XM_011518488.1:c.1466A>T XP_011516790.1:p.Asn489Ile
XM_011518492.1:c.*61A>T XP_011516794.1:n.*61A>T
XM_011518495.1:c.386A>T XP_011516797.1:p.Asn129Ile
XR_929747.1:n.2613A>T
XR_929748.1:n.2511A>T
XR_929750.1:n.2612A>T
XR_929751.1:n.2519A>T
XR_929757.1:n.2486A>T
NM_001346890.1:c.623A>T NP_001333819.1:p.Asn208Ile
XM_011518486.2:c.1709A>T XP_011516788.1:p.Asn570Ile
XM_011518487.2:c.1583A>T XP_011516789.1:p.Asn528Ile
XM_011518488.2:c.1466A>T XP_011516790.1:p.Asn489Ile
XM_011518492.2:c.*61A>T XP_011516794.1:n.*61A>T
XR_929747.2:n.1924A>T
XR_929748.2:n.1822A>T
XR_929750.3:n.1923A>T
XR_929757.2:n.1797A>T
NM_015404.4:c.1676A>T MANE Select NP_056219.3:p.Asn559Ile
NM_001173425.2:c.1676A>T NP_001166896.1:p.Asn559Ile
NM_001083885.3:c.527A>T NP_001077354.2:p.Asn176Ile