Canonical Allele Identifier: CA374619953
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114404050T>G , CM000671.2:g.114404050T>G GRCh38
NC_000009.11:g.117166330T>G , CM000671.1:g.117166330T>G GRCh37
NC_000009.10:g.116206151T>G NCBI36
NG_016700.1:g.106407A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699485.1:c.608A>C ENSP00000514396.1:p.Asp203Ala
ENST00000362057.4:c.2264A>C MANE Select ENSP00000354623.3:p.Asp755Ala
ENST00000674036.8:c.1237A>C
ENST00000674048.1:n.2145A>C
ENST00000265134.10:c.1115A>C ENSP00000265134.6:p.Asp372Ala
ENST00000362057.3:c.2264A>C ENSP00000354623.3:p.Asp755Ala
ENST00000374059.7:c.1211A>C ENSP00000363172.3:p.Asp404Ala
NM_001083885.2:c.1115A>C NP_001077354.2:p.Asp372Ala
NM_001173425.1:c.2261A>C NP_001166896.1:p.Asp754Ala
NM_015404.3:c.2264A>C NP_056219.3:p.Asp755Ala
XM_005251897.3:c.1601A>C XP_005251954.2:p.Asp534Ala
XM_011518484.1:c.2297A>C XP_011516786.1:p.Asp766Ala
XM_011518485.1:c.2297A>C XP_011516787.1:p.Asp766Ala
XM_011518486.1:c.2294A>C XP_011516788.1:p.Asp765Ala
XM_011518487.1:c.2171A>C XP_011516789.1:p.Asp724Ala
XM_011518488.1:c.2054A>C XP_011516790.1:p.Asp685Ala
XM_011518495.1:c.974A>C XP_011516797.1:p.Asp325Ala
XR_929747.1:n.3201A>C
XR_929748.1:n.3099A>C
NM_001346890.1:c.1211A>C NP_001333819.1:p.Asp404Ala
XM_011518486.2:c.2294A>C XP_011516788.1:p.Asp765Ala
XM_011518487.2:c.2171A>C XP_011516789.1:p.Asp724Ala
XM_011518488.2:c.2054A>C XP_011516790.1:p.Asp685Ala
XR_929747.2:n.2512A>C
XR_929748.2:n.2410A>C
NM_015404.4:c.2264A>C MANE Select NP_056219.3:p.Asp755Ala
NM_001173425.2:c.2261A>C NP_001166896.1:p.Asp754Ala
NM_001083885.3:c.1115A>C NP_001077354.2:p.Asp372Ala