Canonical Allele Identifier: CA374621240
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114408014G>C , CM000671.2:g.114408014G>C GRCh38
NC_000009.11:g.117170294G>C , CM000671.1:g.117170294G>C GRCh37
NC_000009.10:g.116210115G>C NCBI36
NG_016700.1:g.102443C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000362057.4:c.1631C>G MANE Select ENSP00000354623.3:p.Thr544Ser
ENST00000673811.1:n.2355C>G
ENST00000674036.8:c.604C>G
ENST00000674048.1:n.1512C>G
ENST00000265134.10:c.482C>G ENSP00000265134.6:p.Thr161Ser
ENST00000362057.3:c.1631C>G ENSP00000354623.3:p.Thr544Ser
ENST00000374059.7:c.578C>G ENSP00000363172.3:p.Thr193Ser
NM_001083885.2:c.482C>G NP_001077354.2:p.Thr161Ser
NM_001173425.1:c.1631C>G NP_001166896.1:p.Thr544Ser
NM_015404.3:c.1631C>G NP_056219.3:p.Thr544Ser
XM_005251897.3:c.968C>G XP_005251954.2:p.Thr323Ser
XM_011518484.1:c.1664C>G XP_011516786.1:p.Thr555Ser
XM_011518485.1:c.1664C>G XP_011516787.1:p.Thr555Ser
XM_011518486.1:c.1664C>G XP_011516788.1:p.Thr555Ser
XM_011518487.1:c.1538C>G XP_011516789.1:p.Thr513Ser
XM_011518488.1:c.1421C>G XP_011516790.1:p.Thr474Ser
XM_011518492.1:c.*16C>G XP_011516794.1:n.*16C>G
XM_011518495.1:c.341C>G XP_011516797.1:p.Thr114Ser
XR_929747.1:n.2568C>G
XR_929748.1:n.2466C>G
XR_929750.1:n.2567C>G
XR_929751.1:n.2474C>G
XR_929757.1:n.2441C>G
NM_001346890.1:c.578C>G NP_001333819.1:p.Thr193Ser
XM_011518486.2:c.1664C>G XP_011516788.1:p.Thr555Ser
XM_011518487.2:c.1538C>G XP_011516789.1:p.Thr513Ser
XM_011518488.2:c.1421C>G XP_011516790.1:p.Thr474Ser
XM_011518492.2:c.*16C>G XP_011516794.1:n.*16C>G
XR_929747.2:n.1879C>G
XR_929748.2:n.1777C>G
XR_929750.3:n.1878C>G
XR_929757.2:n.1752C>G
NM_015404.4:c.1631C>G MANE Select NP_056219.3:p.Thr544Ser
NM_001173425.2:c.1631C>G NP_001166896.1:p.Thr544Ser
NM_001083885.3:c.482C>G NP_001077354.2:p.Thr161Ser