Canonical Allele Identifier: CA398129447
Community Standard Title: NM_002470.4(MYH3):c.5738T>G (p.Ile1913Ser)
Gene: MYH3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10629655A>C , CM000679.2:g.10629655A>C GRCh38
NC_000017.10:g.10532972A>C , CM000679.1:g.10532972A>C GRCh37
NC_000017.9:g.10473697A>C NCBI36
NG_011537.1:g.32644T>G

Transcript Alleles

HGVS Amino-acid Change
NM_002470.4:c.5738T>G MANE Select NP_002461.2:p.Ile1913Ser
ENST00000583535.6:c.5738T>G MANE Select ENSP00000464317.1:p.Ile1913Ser
NM_002470.3:c.5738T>G NP_002461.2:p.Ile1913Ser
ENST00000577963.1:n.280T>G
ENST00000579928.2:n.268T>G
ENST00000583535.5:c.5738T>G ENSP00000464317.1:p.Ile1913Ser
XM_011523870.1:c.5738T>G XP_011522172.1:p.Ile1913Ser
XM_011523870.3:c.5738T>G XP_011522172.1:p.Ile1913Ser
XM_011523871.1:c.5738T>G XP_011522173.1:p.Ile1913Ser
XM_011523871.2:c.5738T>G XP_011522173.1:p.Ile1913Ser