Canonical Allele Identifier: CA374619949
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114404049G>C , CM000671.2:g.114404049G>C GRCh38
NC_000009.11:g.117166329G>C , CM000671.1:g.117166329G>C GRCh37
NC_000009.10:g.116206150G>C NCBI36
NG_016700.1:g.106408C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699485.1:c.609C>G ENSP00000514396.1:p.Asp203Glu
ENST00000362057.4:c.2265C>G MANE Select ENSP00000354623.3:p.Asp755Glu
ENST00000674036.8:c.1238C>G
ENST00000674048.1:n.2146C>G
ENST00000265134.10:c.1116C>G ENSP00000265134.6:p.Asp372Glu
ENST00000362057.3:c.2265C>G ENSP00000354623.3:p.Asp755Glu
ENST00000374059.7:c.1212C>G ENSP00000363172.3:p.Asp404Glu
NM_001083885.2:c.1116C>G NP_001077354.2:p.Asp372Glu
NM_001173425.1:c.2262C>G NP_001166896.1:p.Asp754Glu
NM_015404.3:c.2265C>G NP_056219.3:p.Asp755Glu
XM_005251897.3:c.1602C>G XP_005251954.2:p.Asp534Glu
XM_011518484.1:c.2298C>G XP_011516786.1:p.Asp766Glu
XM_011518485.1:c.2298C>G XP_011516787.1:p.Asp766Glu
XM_011518486.1:c.2295C>G XP_011516788.1:p.Asp765Glu
XM_011518487.1:c.2172C>G XP_011516789.1:p.Asp724Glu
XM_011518488.1:c.2055C>G XP_011516790.1:p.Asp685Glu
XM_011518495.1:c.975C>G XP_011516797.1:p.Asp325Glu
XR_929747.1:n.3202C>G
XR_929748.1:n.3100C>G
NM_001346890.1:c.1212C>G NP_001333819.1:p.Asp404Glu
XM_011518486.2:c.2295C>G XP_011516788.1:p.Asp765Glu
XM_011518487.2:c.2172C>G XP_011516789.1:p.Asp724Glu
XM_011518488.2:c.2055C>G XP_011516790.1:p.Asp685Glu
XR_929747.2:n.2513C>G
XR_929748.2:n.2411C>G
NM_015404.4:c.2265C>G MANE Select NP_056219.3:p.Asp755Glu
NM_001173425.2:c.2262C>G NP_001166896.1:p.Asp754Glu
NM_001083885.3:c.1116C>G NP_001077354.2:p.Asp372Glu