Canonical Allele Identifier: CA374620112
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114406402T>A , CM000671.2:g.114406402T>A GRCh38
NC_000009.11:g.117168682T>A , CM000671.1:g.117168682T>A GRCh37
NC_000009.10:g.116208503T>A NCBI36
NG_016700.1:g.104055A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000699485.1:c.533A>T ENSP00000514396.1:p.Asp178Val
ENST00000362057.4:c.2189A>T MANE Select ENSP00000354623.3:p.Asp730Val
ENST00000674036.8:c.1162A>T
ENST00000674048.1:n.2070A>T
ENST00000265134.10:c.1040A>T ENSP00000265134.6:p.Asp347Val
ENST00000362057.3:c.2189A>T ENSP00000354623.3:p.Asp730Val
ENST00000374059.7:c.1136A>T ENSP00000363172.3:p.Asp379Val
NM_001083885.2:c.1040A>T NP_001077354.2:p.Asp347Val
NM_001173425.1:c.2189A>T NP_001166896.1:p.Asp730Val
NM_015404.3:c.2189A>T NP_056219.3:p.Asp730Val
XM_005251897.3:c.1526A>T XP_005251954.2:p.Asp509Val
XM_011518484.1:c.2222A>T XP_011516786.1:p.Asp741Val
XM_011518485.1:c.2222A>T XP_011516787.1:p.Asp741Val
XM_011518486.1:c.2222A>T XP_011516788.1:p.Asp741Val
XM_011518487.1:c.2096A>T XP_011516789.1:p.Asp699Val
XM_011518488.1:c.1979A>T XP_011516790.1:p.Asp660Val
XM_011518495.1:c.899A>T XP_011516797.1:p.Asp300Val
XR_929747.1:n.3126A>T
XR_929748.1:n.3024A>T
NM_001346890.1:c.1136A>T NP_001333819.1:p.Asp379Val
XM_011518486.2:c.2222A>T XP_011516788.1:p.Asp741Val
XM_011518487.2:c.2096A>T XP_011516789.1:p.Asp699Val
XM_011518488.2:c.1979A>T XP_011516790.1:p.Asp660Val
XR_929747.2:n.2437A>T
XR_929748.2:n.2335A>T
NM_015404.4:c.2189A>T MANE Select NP_056219.3:p.Asp730Val
NM_001173425.2:c.2189A>T NP_001166896.1:p.Asp730Val
NM_001083885.3:c.1040A>T NP_001077354.2:p.Asp347Val