Canonical Allele Identifier: CA299985951
Gene: MYO5B HGNC NCBI

Linked Data

ClinVar Variation Id: 1671397
ClinVar RCV Id: RCV002198880
dbSNP Id: rs895818747
gnomAD v4: 18-49974460-C-A
MyVariant Identifiers: chr18:g.47500830C>A (hg19) chr18:g.49974460C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49974460C>A , CM000680.2:g.49974460C>A GRCh38
NC_000018.9:g.47500830C>A , CM000680.1:g.47500830C>A GRCh37
NC_000018.8:g.45754828C>A NCBI36
NG_012925.1:g.225622G>T
NG_012925.2:g.225622G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000697219.1:c.1009G>T
ENST00000285039.12:c.1212G>T MANE Select ENSP00000285039.6:p.Leu404=
ENST00000285039.11:c.1212G>T ENSP00000285039.6:p.Leu404=
ENST00000616031.4:c.1209G>T ENSP00000479038.1:p.Leu403=
NM_001080467.2:c.1212G>T NP_001073936.1:p.Leu404=
NM_001080467.3:c.1212G>T MANE Select NP_001073936.1:p.Leu404=
Search 100 bp 5'
Search 100 bp 3'