Canonical Allele Identifier: CA1206206702

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169707418A= , CM000663.2:g.169707418A= GRCh38
NC_000001.10:g.169676559A= , CM000663.1:g.169676559A= GRCh37
NC_000001.9:g.167943183A= NCBI36
NG_016132.1:g.9285T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000236147.6:c.504T= (SELL) MANE Select ENSP00000236147.5:p.His168=
ENST00000650983.1:c.543T= (SELL) ENSP00000498227.1:p.His181=
ENST00000236147.4:c.543T= (SELL) ENSP00000236147.4:p.His181=
ENST00000463108.5:n.704T= (SELL)
ENST00000466340.1:n.516T= (SELL)
ENST00000479657.5:n.256T= (SELL)
ENST00000498289.5:n.851+23486A= (FIRRM)
NM_000655.4:c.543T= (SELL) NP_000646.2:p.His181=
NR_029467.1:n.472T= (SELL)
NM_000655.5:c.504T= (SELL) MANE Select NP_000646.3:p.His168=
NR_029467.2:n.473T= (SELL)