Canonical Allele Identifier: CA2302428767
Gene: MYO5B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49878951G= , CM000680.2:g.49878951G= GRCh38
NC_000018.9:g.47405321G= , CM000680.1:g.47405321G= GRCh37
NC_000018.8:g.45659319G= NCBI36
NG_012925.1:g.321131C=
NG_012925.2:g.321131C=

Transcript Alleles

HGVS Amino-acid change
ENST00000697218.1:n.24C=
ENST00000697219.1:c.3067C=
ENST00000285039.12:c.3270C= MANE Select ENSP00000285039.6:p.Ile1090=
ENST00000285039.11:c.3270C= ENSP00000285039.6:p.Ile1090=
ENST00000324581.10:c.699C= ENSP00000315531.7:p.Ile233=
ENST00000589568.1:n.471C=
ENST00000616031.4:c.1907-42218C= ENSP00000479038.1:n.1907-42218C=
NM_001080467.2:c.3270C= NP_001073936.1:p.Ile1090=
NM_001080467.3:c.3270C= MANE Select NP_001073936.1:p.Ile1090=