Canonical Allele Identifier: CA1206206679

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169707341C= , CM000663.2:g.169707341C= GRCh38
NC_000001.10:g.169676482C= , CM000663.1:g.169676482C= GRCh37
NC_000001.9:g.167943106C= NCBI36
NG_016132.1:g.9362G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000236147.6:c.580+1G= (SELL) MANE Select ENSP00000236147.5:n.580+1G=
ENST00000650983.1:c.619+1G= (SELL) ENSP00000498227.1:n.619+1G=
ENST00000236147.4:c.619+1G= (SELL) ENSP00000236147.4:n.619+1G=
ENST00000463108.5:n.780+1G= (SELL)
ENST00000466340.1:n.592+1G= (SELL)
ENST00000479657.5:n.332+1G= (SELL)
ENST00000498289.5:n.851+23409C= (FIRRM)
NM_000655.4:c.619+1G= (SELL) NP_000646.2:n.619+1G=
NR_029467.1:n.548+1G= (SELL)
NM_000655.5:c.580+1G= (SELL) MANE Select NP_000646.3:n.580+1G=
NR_029467.2:n.549+1G= (SELL)