Canonical Allele Identifier: CA374620326
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114406504G>T , CM000671.2:g.114406504G>T GRCh38
NC_000009.11:g.117168784G>T , CM000671.1:g.117168784G>T GRCh37
NC_000009.10:g.116208605G>T NCBI36
NG_016700.1:g.103953C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000699485.1:c.431C>A ENSP00000514396.1:p.Ala144Asp
ENST00000362057.4:c.2087C>A MANE Select ENSP00000354623.3:p.Ala696Asp
ENST00000674036.8:c.1060C>A
ENST00000674048.1:n.1968C>A
ENST00000265134.10:c.938C>A ENSP00000265134.6:p.Ala313Asp
ENST00000362057.3:c.2087C>A ENSP00000354623.3:p.Ala696Asp
ENST00000374059.7:c.1034C>A ENSP00000363172.3:p.Ala345Asp
NM_001083885.2:c.938C>A NP_001077354.2:p.Ala313Asp
NM_001173425.1:c.2087C>A NP_001166896.1:p.Ala696Asp
NM_015404.3:c.2087C>A NP_056219.3:p.Ala696Asp
XM_005251897.3:c.1424C>A XP_005251954.2:p.Ala475Asp
XM_011518484.1:c.2120C>A XP_011516786.1:p.Ala707Asp
XM_011518485.1:c.2120C>A XP_011516787.1:p.Ala707Asp
XM_011518486.1:c.2120C>A XP_011516788.1:p.Ala707Asp
XM_011518487.1:c.1994C>A XP_011516789.1:p.Ala665Asp
XM_011518488.1:c.1877C>A XP_011516790.1:p.Ala626Asp
XM_011518495.1:c.797C>A XP_011516797.1:p.Ala266Asp
XR_929747.1:n.3024C>A
XR_929748.1:n.2922C>A
NM_001346890.1:c.1034C>A NP_001333819.1:p.Ala345Asp
XM_011518486.2:c.2120C>A XP_011516788.1:p.Ala707Asp
XM_011518487.2:c.1994C>A XP_011516789.1:p.Ala665Asp
XM_011518488.2:c.1877C>A XP_011516790.1:p.Ala626Asp
XR_929747.2:n.2335C>A
XR_929748.2:n.2233C>A
NM_015404.4:c.2087C>A MANE Select NP_056219.3:p.Ala696Asp
NM_001173425.2:c.2087C>A NP_001166896.1:p.Ala696Asp
NM_001083885.3:c.938C>A NP_001077354.2:p.Ala313Asp