Canonical Allele Identifier: CA645534402

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169707456G>C , CM000663.2:g.169707456G>C GRCh38
NC_000001.10:g.169676597G>C , CM000663.1:g.169676597G>C GRCh37
NC_000001.9:g.167943221G>C NCBI36
NG_016132.1:g.9247C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000236147.6:c.473-7C>G (SELL) MANE Select ENSP00000236147.5:n.473-7C>G
ENST00000650983.1:c.512-7C>G (SELL) ENSP00000498227.1:n.512-7C>G
ENST00000236147.4:c.512-7C>G (SELL) ENSP00000236147.4:n.512-7C>G
ENST00000463108.5:n.673-7C>G (SELL)
ENST00000466340.1:n.485-7C>G (SELL)
ENST00000479657.5:n.225-7C>G (SELL)
ENST00000498289.5:n.851+23524G>C (FIRRM)
NM_000655.4:c.512-7C>G (SELL) NP_000646.2:n.512-7C>G
NR_029467.1:n.441-7C>G (SELL)
NM_000655.5:c.473-7C>G (SELL) MANE Select NP_000646.3:n.473-7C>G
NR_029467.2:n.442-7C>G (SELL)