Canonical Allele Identifier: CA374621169
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114407979C>G , CM000671.2:g.114407979C>G GRCh38
NC_000009.11:g.117170259C>G , CM000671.1:g.117170259C>G GRCh37
NC_000009.10:g.116210080C>G NCBI36
NG_016700.1:g.102478G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000362057.4:c.1666G>C MANE Select ENSP00000354623.3:p.Gly556Arg
ENST00000673811.1:n.2390G>C
ENST00000674036.8:c.639G>C
ENST00000674048.1:n.1547G>C
ENST00000265134.10:c.517G>C ENSP00000265134.6:p.Gly173Arg
ENST00000362057.3:c.1666G>C ENSP00000354623.3:p.Gly556Arg
ENST00000374059.7:c.613G>C ENSP00000363172.3:p.Gly205Arg
NM_001083885.2:c.517G>C NP_001077354.2:p.Gly173Arg
NM_001173425.1:c.1666G>C NP_001166896.1:p.Gly556Arg
NM_015404.3:c.1666G>C NP_056219.3:p.Gly556Arg
XM_005251897.3:c.1003G>C XP_005251954.2:p.Gly335Arg
XM_011518484.1:c.1699G>C XP_011516786.1:p.Gly567Arg
XM_011518485.1:c.1699G>C XP_011516787.1:p.Gly567Arg
XM_011518486.1:c.1699G>C XP_011516788.1:p.Gly567Arg
XM_011518487.1:c.1573G>C XP_011516789.1:p.Gly525Arg
XM_011518488.1:c.1456G>C XP_011516790.1:p.Gly486Arg
XM_011518492.1:c.*51G>C XP_011516794.1:n.*51G>C
XM_011518495.1:c.376G>C XP_011516797.1:p.Gly126Arg
XR_929747.1:n.2603G>C
XR_929748.1:n.2501G>C
XR_929750.1:n.2602G>C
XR_929751.1:n.2509G>C
XR_929757.1:n.2476G>C
NM_001346890.1:c.613G>C NP_001333819.1:p.Gly205Arg
XM_011518486.2:c.1699G>C XP_011516788.1:p.Gly567Arg
XM_011518487.2:c.1573G>C XP_011516789.1:p.Gly525Arg
XM_011518488.2:c.1456G>C XP_011516790.1:p.Gly486Arg
XM_011518492.2:c.*51G>C XP_011516794.1:n.*51G>C
XR_929747.2:n.1914G>C
XR_929748.2:n.1812G>C
XR_929750.3:n.1913G>C
XR_929757.2:n.1787G>C
NM_015404.4:c.1666G>C MANE Select NP_056219.3:p.Gly556Arg
NM_001173425.2:c.1666G>C NP_001166896.1:p.Gly556Arg
NM_001083885.3:c.517G>C NP_001077354.2:p.Gly173Arg