Canonical Allele Identifier: CA5205624

Gene: WHRN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114403320G>A , CM000671.2:g.114403320G>A	GRCh38
NC_000009.11:g.117165600G>A , CM000671.1:g.117165600G>A	GRCh37
NC_000009.10:g.116205421G>A	NCBI36
NG_016700.1:g.107137C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.782C>T	ENSP00000514396.1:p.Thr261Met
ENST00000362057.4:c.2438C>T MANE Select	ENSP00000354623.3:p.Thr813Met
ENST00000674036.8:c.1411C>T
ENST00000674048.1:n.2319C>T
ENST00000265134.10:c.1289C>T	ENSP00000265134.6:p.Thr430Met
ENST00000362057.3:c.2438C>T	ENSP00000354623.3:p.Thr813Met
ENST00000374059.7:c.1385C>T	ENSP00000363172.3:p.Thr462Met
NM_001083885.2:c.1289C>T	NP_001077354.2:p.Thr430Met
NM_001173425.1:c.2435C>T	NP_001166896.1:p.Thr812Met
NM_015404.3:c.2438C>T	NP_056219.3:p.Thr813Met
XM_005251897.3:c.1775C>T	XP_005251954.2:p.Thr592Met
XM_011518484.1:c.2471C>T	XP_011516786.1:p.Thr824Met
XM_011518485.1:c.2471C>T	XP_011516787.1:p.Thr824Met
XM_011518486.1:c.2468C>T	XP_011516788.1:p.Thr823Met
XM_011518487.1:c.2345C>T	XP_011516789.1:p.Thr782Met
XM_011518488.1:c.2228C>T	XP_011516790.1:p.Thr743Met
XM_011518495.1:c.1148C>T	XP_011516797.1:p.Thr383Met
XR_929747.1:n.3375C>T
XR_929748.1:n.3273C>T
NM_001346890.1:c.1385C>T	NP_001333819.1:p.Thr462Met
XM_011518486.2:c.2468C>T	XP_011516788.1:p.Thr823Met
XM_011518487.2:c.2345C>T	XP_011516789.1:p.Thr782Met
XM_011518488.2:c.2228C>T	XP_011516790.1:p.Thr743Met
XR_929747.2:n.2686C>T
XR_929748.2:n.2584C>T
NM_015404.4:c.2438C>T MANE Select	NP_056219.3:p.Thr813Met
NM_001173425.2:c.2435C>T	NP_001166896.1:p.Thr812Met
NM_001083885.3:c.1289C>T	NP_001077354.2:p.Thr430Met