Canonical Allele Identifier: CA5205653

Gene: WHRN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114403930C>T , CM000671.2:g.114403930C>T	GRCh38
NC_000009.11:g.117166210C>T , CM000671.1:g.117166210C>T	GRCh37
NC_000009.10:g.116206031C>T	NCBI36
NG_016700.1:g.106527G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015404.4:c.2384G>A MANE Select	NP_056219.3:p.Arg795Gln
ENST00000362057.4:c.2384G>A MANE Select	ENSP00000354623.3:p.Arg795Gln
NM_001083885.2:c.1235G>A	NP_001077354.2:p.Arg412Gln
NM_001083885.3:c.1235G>A	NP_001077354.2:p.Arg412Gln
NM_001173425.1:c.2381G>A	NP_001166896.1:p.Arg794Gln
NM_001173425.2:c.2381G>A	NP_001166896.1:p.Arg794Gln
NM_001346890.1:c.1331G>A	NP_001333819.1:p.Arg444Gln
NM_015404.3:c.2384G>A	NP_056219.3:p.Arg795Gln
ENST00000265134.10:c.1235G>A	ENSP00000265134.6:p.Arg412Gln
ENST00000362057.3:c.2384G>A	ENSP00000354623.3:p.Arg795Gln
ENST00000374059.7:c.1331G>A	ENSP00000363172.3:p.Arg444Gln
ENST00000674036.8:c.1357G>A
ENST00000674048.1:n.2265G>A
ENST00000699485.1:c.728G>A	ENSP00000514396.1:p.Arg243Gln
XM_005251897.3:c.1721G>A	XP_005251954.2:p.Arg574Gln
XM_011518484.1:c.2417G>A	XP_011516786.1:p.Arg806Gln
XM_011518485.1:c.2417G>A	XP_011516787.1:p.Arg806Gln
XM_011518486.1:c.2414G>A	XP_011516788.1:p.Arg805Gln
XM_011518486.2:c.2414G>A	XP_011516788.1:p.Arg805Gln
XM_011518487.1:c.2291G>A	XP_011516789.1:p.Arg764Gln
XM_011518487.2:c.2291G>A	XP_011516789.1:p.Arg764Gln
XM_011518488.1:c.2174G>A	XP_011516790.1:p.Arg725Gln
XM_011518488.2:c.2174G>A	XP_011516790.1:p.Arg725Gln
XM_011518495.1:c.1094G>A	XP_011516797.1:p.Arg365Gln
XR_929747.1:n.3321G>A
XR_929747.2:n.2632G>A
XR_929748.1:n.3219G>A
XR_929748.2:n.2530G>A