Canonical Allele Identifier: CA1206206709

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169707428C= , CM000663.2:g.169707428C= GRCh38
NC_000001.10:g.169676569C= , CM000663.1:g.169676569C= GRCh37
NC_000001.9:g.167943193C= NCBI36
NG_016132.1:g.9275G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000236147.6:c.494G= (SELL) MANE Select ENSP00000236147.5:p.Cys165=
ENST00000650983.1:c.533G= (SELL) ENSP00000498227.1:p.Cys178=
ENST00000236147.4:c.533G= (SELL) ENSP00000236147.4:p.Cys178=
ENST00000463108.5:n.694G= (SELL)
ENST00000466340.1:n.506G= (SELL)
ENST00000479657.5:n.246G= (SELL)
ENST00000498289.5:n.851+23496C= (FIRRM)
NM_000655.4:c.533G= (SELL) NP_000646.2:p.Cys178=
NR_029467.1:n.462G= (SELL)
NM_000655.5:c.494G= (SELL) MANE Select NP_000646.3:p.Cys165=
NR_029467.2:n.463G= (SELL)