Canonical Allele Identifier: CA402432688
Gene: MYO5B HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.47500829C>T (hg19) chr18:g.49974459C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49974459C>T , CM000680.2:g.49974459C>T GRCh38
NC_000018.9:g.47500829C>T , CM000680.1:g.47500829C>T GRCh37
NC_000018.8:g.45754827C>T NCBI36
NG_012925.1:g.225623G>A
NG_012925.2:g.225623G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000697219.1:c.1010G>A
ENST00000285039.12:c.1213G>A MANE Select ENSP00000285039.6:p.Ala405Thr
ENST00000285039.11:c.1213G>A ENSP00000285039.6:p.Ala405Thr
ENST00000616031.4:c.1210G>A ENSP00000479038.1:p.Ala404Thr
NM_001080467.2:c.1213G>A NP_001073936.1:p.Ala405Thr
NM_001080467.3:c.1213G>A MANE Select NP_001073936.1:p.Ala405Thr
Search 100 bp 5'
Search 100 bp 3'