Canonical Allele Identifier: CA2746581982

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169707260T>G , CM000663.2:g.169707260T>G GRCh38
NC_000001.10:g.169676401T>G , CM000663.1:g.169676401T>G GRCh37
NC_000001.9:g.167943025T>G NCBI36
NG_016132.1:g.9443A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000236147.6:c.580+82A>C (SELL) MANE Select ENSP00000236147.5:n.580+82A>C
ENST00000650983.1:c.619+82A>C (SELL) ENSP00000498227.1:n.619+82A>C
ENST00000236147.4:c.619+82A>C (SELL) ENSP00000236147.4:n.619+82A>C
ENST00000463108.5:n.780+82A>C (SELL)
ENST00000466340.1:n.592+82A>C (SELL)
ENST00000479657.5:n.332+82A>C (SELL)
ENST00000498289.5:n.851+23328T>G (FIRRM)
NM_000655.4:c.619+82A>C (SELL) NP_000646.2:n.619+82A>C
NR_029467.1:n.548+82A>C (SELL)
NM_000655.5:c.580+82A>C (SELL) MANE Select NP_000646.3:n.580+82A>C
NR_029467.2:n.549+82A>C (SELL)