Canonical Allele Identifier: CA402428666
Gene: MYO5B HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.47405317T>C (hg19) chr18:g.49878947T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49878947T>C , CM000680.2:g.49878947T>C GRCh38
NC_000018.9:g.47405317T>C , CM000680.1:g.47405317T>C GRCh37
NC_000018.8:g.45659315T>C NCBI36
NG_012925.1:g.321135A>G
NG_012925.2:g.321135A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000697218.1:n.28A>G
ENST00000697219.1:c.3071A>G
ENST00000285039.12:c.3274A>G MANE Select ENSP00000285039.6:p.Lys1092Glu
ENST00000285039.11:c.3274A>G ENSP00000285039.6:p.Lys1092Glu
ENST00000324581.10:c.703A>G ENSP00000315531.7:p.Lys235Glu
ENST00000589568.1:n.475A>G
ENST00000616031.4:c.1907-42214A>G ENSP00000479038.1:n.1907-42214A>G
NM_001080467.2:c.3274A>G NP_001073936.1:p.Lys1092Glu
NM_001080467.3:c.3274A>G MANE Select NP_001073936.1:p.Lys1092Glu
Search 100 bp 5'
Search 100 bp 3'