Canonical Allele Identifier: CA402428657
Gene: MYO5B HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.47405313G>T (hg19) chr18:g.49878943G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49878943G>T , CM000680.2:g.49878943G>T GRCh38
NC_000018.9:g.47405313G>T , CM000680.1:g.47405313G>T GRCh37
NC_000018.8:g.45659311G>T NCBI36
NG_012925.1:g.321139C>A
NG_012925.2:g.321139C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697218.1:n.32C>A
ENST00000697219.1:c.3073+2C>A
ENST00000285039.12:c.3276+2C>A MANE Select ENSP00000285039.6:n.3276+2C>A
ENST00000285039.11:c.3276+2C>A ENSP00000285039.6:n.3276+2C>A
ENST00000324581.10:c.705+2C>A ENSP00000315531.7:n.705+2C>A
ENST00000589568.1:n.477+2C>A
ENST00000616031.4:c.1907-42210C>A ENSP00000479038.1:n.1907-42210C>A
NM_001080467.2:c.3276+2C>A NP_001073936.1:n.3276+2C>A
NM_001080467.3:c.3276+2C>A MANE Select NP_001073936.1:n.3276+2C>A
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