Canonical Allele Identifier: CA402432656
Gene: MYO5B HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.47500822T>C (hg19) chr18:g.49974452T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49974452T>C , CM000680.2:g.49974452T>C GRCh38
NC_000018.9:g.47500822T>C , CM000680.1:g.47500822T>C GRCh37
NC_000018.8:g.45754820T>C NCBI36
NG_012925.1:g.225630A>G
NG_012925.2:g.225630A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000697219.1:c.1017A>G
ENST00000285039.12:c.1220A>G MANE Select ENSP00000285039.6:p.His407Arg
ENST00000285039.11:c.1220A>G ENSP00000285039.6:p.His407Arg
ENST00000616031.4:c.1217A>G ENSP00000479038.1:p.His406Arg
NM_001080467.2:c.1220A>G NP_001073936.1:p.His407Arg
NM_001080467.3:c.1220A>G MANE Select NP_001073936.1:p.His407Arg
Search 100 bp 5'
Search 100 bp 3'