Canonical Allele Identifier: CA248173

Gene: WHRN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114406648G>T , CM000671.2:g.114406648G>T	GRCh38
NC_000009.11:g.117168928G>T , CM000671.1:g.117168928G>T	GRCh37
NC_000009.10:g.116208749G>T	NCBI36
NG_016700.1:g.103809C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.287C>A	ENSP00000514396.1:p.Ser96Tyr
ENST00000362057.4:c.1943C>A MANE Select	ENSP00000354623.3:p.Ser648Tyr
ENST00000673811.1:n.2667C>A
ENST00000674036.8:c.916C>A
ENST00000674048.1:n.1824C>A
ENST00000265134.10:c.794C>A	ENSP00000265134.6:p.Ser265Tyr
ENST00000362057.3:c.1943C>A	ENSP00000354623.3:p.Ser648Tyr
ENST00000374059.7:c.890C>A	ENSP00000363172.3:p.Ser297Tyr
NM_001083885.2:c.794C>A	NP_001077354.2:p.Ser265Tyr
NM_001173425.1:c.1943C>A	NP_001166896.1:p.Ser648Tyr
NM_015404.3:c.1943C>A	NP_056219.3:p.Ser648Tyr
XM_005251897.3:c.1280C>A	XP_005251954.2:p.Ser427Tyr
XM_011518484.1:c.1976C>A	XP_011516786.1:p.Ser659Tyr
XM_011518485.1:c.1976C>A	XP_011516787.1:p.Ser659Tyr
XM_011518486.1:c.1976C>A	XP_011516788.1:p.Ser659Tyr
XM_011518487.1:c.1850C>A	XP_011516789.1:p.Ser617Tyr
XM_011518488.1:c.1733C>A	XP_011516790.1:p.Ser578Tyr
XM_011518495.1:c.653C>A	XP_011516797.1:p.Ser218Tyr
XR_929747.1:n.2880C>A
XR_929748.1:n.2778C>A
NM_001346890.1:c.890C>A	NP_001333819.1:p.Ser297Tyr
XM_011518486.2:c.1976C>A	XP_011516788.1:p.Ser659Tyr
XM_011518487.2:c.1850C>A	XP_011516789.1:p.Ser617Tyr
XM_011518488.2:c.1733C>A	XP_011516790.1:p.Ser578Tyr
XR_929747.2:n.2191C>A
XR_929748.2:n.2089C>A
NM_015404.4:c.1943C>A MANE Select	NP_056219.3:p.Ser648Tyr
NM_001173425.2:c.1943C>A	NP_001166896.1:p.Ser648Tyr
NM_001083885.3:c.794C>A	NP_001077354.2:p.Ser265Tyr