Canonical Allele Identifier: CA5205825

Gene: WHRN

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114406875G>A , CM000671.2:g.114406875G>A	GRCh38
NC_000009.11:g.117169155G>A , CM000671.1:g.117169155G>A	GRCh37
NC_000009.10:g.116208976G>A	NCBI36
NG_016700.1:g.103582C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.60C>T	ENSP00000514396.1:p.Thr20=
ENST00000362057.4:c.1716C>T MANE Select	ENSP00000354623.3:p.Thr572=
ENST00000673811.1:n.2440C>T
ENST00000674036.8:c.689C>T
ENST00000674048.1:n.1597C>T
ENST00000265134.10:c.567C>T	ENSP00000265134.6:p.Thr189=
ENST00000362057.3:c.1716C>T	ENSP00000354623.3:p.Thr572=
ENST00000374059.7:c.663C>T	ENSP00000363172.3:p.Thr221=
NM_001083885.2:c.567C>T	NP_001077354.2:p.Thr189=
NM_001173425.1:c.1716C>T	NP_001166896.1:p.Thr572=
NM_015404.3:c.1716C>T	NP_056219.3:p.Thr572=
XM_005251897.3:c.1053C>T	XP_005251954.2:p.Thr351=
XM_011518484.1:c.1749C>T	XP_011516786.1:p.Thr583=
XM_011518485.1:c.1749C>T	XP_011516787.1:p.Thr583=
XM_011518486.1:c.1749C>T	XP_011516788.1:p.Thr583=
XM_011518487.1:c.1623C>T	XP_011516789.1:p.Thr541=
XM_011518488.1:c.1506C>T	XP_011516790.1:p.Thr502=
XM_011518495.1:c.426C>T	XP_011516797.1:p.Thr142=
XR_929747.1:n.2653C>T
XR_929748.1:n.2551C>T
XR_929751.1:n.2559C>T
XR_929757.1:n.2526C>T
NM_001346890.1:c.663C>T	NP_001333819.1:p.Thr221=
XM_011518486.2:c.1749C>T	XP_011516788.1:p.Thr583=
XM_011518487.2:c.1623C>T	XP_011516789.1:p.Thr541=
XM_011518488.2:c.1506C>T	XP_011516790.1:p.Thr502=
XR_929747.2:n.1964C>T
XR_929748.2:n.1862C>T
XR_929757.2:n.1837C>T
NM_015404.4:c.1716C>T MANE Select	NP_056219.3:p.Thr572=
NM_001173425.2:c.1716C>T	NP_001166896.1:p.Thr572=
NM_001083885.3:c.567C>T	NP_001077354.2:p.Thr189=