Canonical Allele Identifier: CA10628847

Gene: WHRN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407962G>A , CM000671.2:g.114407962G>A	GRCh38
NC_000009.11:g.117170242G>A , CM000671.1:g.117170242G>A	GRCh37
NC_000009.10:g.116210063G>A	NCBI36
NG_016700.1:g.102495C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015404.4:c.1683C>T MANE Select	NP_056219.3:p.Leu561=
ENST00000362057.4:c.1683C>T MANE Select	ENSP00000354623.3:p.Leu561=
NM_001083885.2:c.534C>T	NP_001077354.2:p.Leu178=
NM_001083885.3:c.534C>T	NP_001077354.2:p.Leu178=
NM_001173425.1:c.1683C>T	NP_001166896.1:p.Leu561=
NM_001173425.2:c.1683C>T	NP_001166896.1:p.Leu561=
NM_001346890.1:c.630C>T	NP_001333819.1:p.Leu210=
NM_015404.3:c.1683C>T	NP_056219.3:p.Leu561=
ENST00000265134.10:c.534C>T	ENSP00000265134.6:p.Leu178=
ENST00000362057.3:c.1683C>T	ENSP00000354623.3:p.Leu561=
ENST00000374059.7:c.630C>T	ENSP00000363172.3:p.Leu210=
ENST00000673811.1:n.2407C>T
ENST00000674036.8:c.656C>T
ENST00000674048.1:n.1564C>T
XM_005251897.3:c.1020C>T	XP_005251954.2:p.Leu340=
XM_011518484.1:c.1716C>T	XP_011516786.1:p.Leu572=
XM_011518485.1:c.1716C>T	XP_011516787.1:p.Leu572=
XM_011518486.1:c.1716C>T	XP_011516788.1:p.Leu572=
XM_011518486.2:c.1716C>T	XP_011516788.1:p.Leu572=
XM_011518487.1:c.1590C>T	XP_011516789.1:p.Leu530=
XM_011518487.2:c.1590C>T	XP_011516789.1:p.Leu530=
XM_011518488.1:c.1473C>T	XP_011516790.1:p.Leu491=
XM_011518488.2:c.1473C>T	XP_011516790.1:p.Leu491=
XM_011518492.1:c.*68C>T	XP_011516794.1:n.*68C>T
XM_011518492.2:c.*68C>T	XP_011516794.1:n.*68C>T
XM_011518495.1:c.393C>T	XP_011516797.1:p.Leu131=
XR_929747.1:n.2620C>T
XR_929747.2:n.1931C>T
XR_929748.1:n.2518C>T
XR_929748.2:n.1829C>T
XR_929750.1:n.2619C>T
XR_929750.3:n.1930C>T
XR_929751.1:n.2526C>T
XR_929757.1:n.2493C>T
XR_929757.2:n.1804C>T