Canonical Allele Identifier: CA116972
Community Standard Title: NM_001077653.2(TBX20):c.456C>G (p.Ile152Met)
Gene: TBX20 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.35248766G>C , CM000669.2:g.35248766G>C GRCh38
NC_000007.13:g.35288378G>C , CM000669.1:g.35288378G>C GRCh37
NC_000007.12:g.35254903G>C NCBI36
NG_015805.1:g.10334C>G , LRG_755:g.10334C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001077653.2:c.456C>G , LRG_755t1:c.456C>G MANE Select NP_001071121.1:p.Ile152Met
ENST00000408931.4:c.456C>G MANE Select ENSP00000386170.3:p.Ile152Met
NM_001166220.1:c.456C>G NP_001159692.1:p.Ile152Met
ENST00000408931.3:c.456C>G ENSP00000386170.3:p.Ile152Met
ENST00000492961.1:n.467C>G
XM_017012456.1:c.-3018C>G XP_016867945.1:n.-3018C>G