Canonical Allele Identifier: CA1128357233
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114498594A>G , CM000671.2:g.114498594A>G GRCh38
NC_000009.11:g.117260874A>G , CM000671.1:g.117260874A>G GRCh37
NC_000009.10:g.116300695A>G NCBI36
NG_016700.1:g.11863T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000699486.1:c.342+5590T>C ENSP00000514397.1:n.342+5590T>C
ENST00000362057.4:c.618+5590T>C MANE Select ENSP00000354623.3:n.618+5590T>C
ENST00000673811.1:n.366+5590T>C
ENST00000265134.10:c.-532+4513T>C ENSP00000265134.6:n.-532+4513T>C
ENST00000362057.3:c.618+5590T>C ENSP00000354623.3:n.618+5590T>C
ENST00000374057.3:c.618+5590T>C ENSP00000363170.3:n.618+5590T>C
NM_001083885.2:c.-532+4513T>C NP_001077354.2:n.-532+4513T>C
NM_001173425.1:c.618+5590T>C NP_001166896.1:n.618+5590T>C
NM_015404.3:c.618+5590T>C NP_056219.3:n.618+5590T>C
XM_005251897.3:c.618+5590T>C XP_005251954.2:n.618+5590T>C
XM_011518484.1:c.618+5590T>C XP_011516786.1:n.618+5590T>C
XM_011518485.1:c.618+5590T>C XP_011516787.1:n.618+5590T>C
XM_011518486.1:c.618+5590T>C XP_011516788.1:n.618+5590T>C
XM_011518487.1:c.618+5590T>C XP_011516789.1:n.618+5590T>C
XM_011518488.1:c.618+5590T>C XP_011516790.1:n.618+5590T>C
XM_011518489.1:c.618+5590T>C XP_011516791.1:n.618+5590T>C
XM_011518490.1:c.618+5590T>C XP_011516792.1:n.618+5590T>C
XM_011518491.1:c.618+5590T>C XP_011516793.1:n.618+5590T>C
XM_011518492.1:c.618+5590T>C XP_011516794.1:n.618+5590T>C
XM_011518493.1:c.618+5590T>C XP_011516795.1:n.618+5590T>C
XM_011518494.1:c.618+5590T>C XP_011516796.1:n.618+5590T>C
XR_929747.1:n.1326+5590T>C
XR_929748.1:n.1326+5590T>C
XR_929749.1:n.1326+5590T>C
XR_929750.1:n.1326+5590T>C
XR_929751.1:n.1326+5590T>C
XR_929752.1:n.1326+5590T>C
XR_929753.1:n.1326+5590T>C
XR_929754.1:n.1326+5590T>C
XR_929755.1:n.1326+5590T>C
XR_929756.1:n.1326+5590T>C
XR_929757.1:n.1326+5590T>C
XM_011518486.2:c.618+5590T>C XP_011516788.1:n.618+5590T>C
XM_011518487.2:c.618+5590T>C XP_011516789.1:n.618+5590T>C
XM_011518488.2:c.618+5590T>C XP_011516790.1:n.618+5590T>C
XM_011518489.3:c.618+5590T>C XP_011516791.1:n.618+5590T>C
XM_011518491.3:c.618+5590T>C XP_011516793.1:n.618+5590T>C
XM_011518492.2:c.618+5590T>C XP_011516794.1:n.618+5590T>C
XM_011518494.3:c.618+5590T>C XP_011516796.1:n.618+5590T>C
XR_929747.2:n.637+5590T>C
XR_929748.2:n.637+5590T>C
XR_929749.2:n.637+5590T>C
XR_929750.3:n.637+5590T>C
XR_929752.2:n.637+5590T>C
XR_929753.3:n.637+5590T>C
XR_929754.2:n.637+5590T>C
XR_929755.3:n.637+5590T>C
XR_929756.2:n.637+5590T>C
XR_929757.2:n.637+5590T>C
NM_015404.4:c.618+5590T>C MANE Select NP_056219.3:n.618+5590T>C
NM_001173425.2:c.618+5590T>C NP_001166896.1:n.618+5590T>C
NM_001083885.3:c.-532+4513T>C NP_001077354.2:n.-532+4513T>C