Canonical Allele Identifier: CA374620327
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114406505C>A , CM000671.2:g.114406505C>A GRCh38
NC_000009.11:g.117168785C>A , CM000671.1:g.117168785C>A GRCh37
NC_000009.10:g.116208606C>A NCBI36
NG_016700.1:g.103952G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000699485.1:c.430G>T ENSP00000514396.1:p.Ala144Ser
ENST00000362057.4:c.2086G>T MANE Select ENSP00000354623.3:p.Ala696Ser
ENST00000674036.8:c.1059G>T
ENST00000674048.1:n.1967G>T
ENST00000265134.10:c.937G>T ENSP00000265134.6:p.Ala313Ser
ENST00000362057.3:c.2086G>T ENSP00000354623.3:p.Ala696Ser
ENST00000374059.7:c.1033G>T ENSP00000363172.3:p.Ala345Ser
NM_001083885.2:c.937G>T NP_001077354.2:p.Ala313Ser
NM_001173425.1:c.2086G>T NP_001166896.1:p.Ala696Ser
NM_015404.3:c.2086G>T NP_056219.3:p.Ala696Ser
XM_005251897.3:c.1423G>T XP_005251954.2:p.Ala475Ser
XM_011518484.1:c.2119G>T XP_011516786.1:p.Ala707Ser
XM_011518485.1:c.2119G>T XP_011516787.1:p.Ala707Ser
XM_011518486.1:c.2119G>T XP_011516788.1:p.Ala707Ser
XM_011518487.1:c.1993G>T XP_011516789.1:p.Ala665Ser
XM_011518488.1:c.1876G>T XP_011516790.1:p.Ala626Ser
XM_011518495.1:c.796G>T XP_011516797.1:p.Ala266Ser
XR_929747.1:n.3023G>T
XR_929748.1:n.2921G>T
NM_001346890.1:c.1033G>T NP_001333819.1:p.Ala345Ser
XM_011518486.2:c.2119G>T XP_011516788.1:p.Ala707Ser
XM_011518487.2:c.1993G>T XP_011516789.1:p.Ala665Ser
XM_011518488.2:c.1876G>T XP_011516790.1:p.Ala626Ser
XR_929747.2:n.2334G>T
XR_929748.2:n.2232G>T
NM_015404.4:c.2086G>T MANE Select NP_056219.3:p.Ala696Ser
NM_001173425.2:c.2086G>T NP_001166896.1:p.Ala696Ser
NM_001083885.3:c.937G>T NP_001077354.2:p.Ala313Ser