Canonical Allele Identifier: CA299977188
Gene: MYO5B HGNC NCBI

Linked Data

ClinVar Variation Id: 1304940
ClinVar RCV Id: RCV001754508 RCV003264077
dbSNP Id: rs777155836
gnomAD v2: 18-47405320-T-G
gnomAD v3: 18-49878950-T-G
gnomAD v4: 18-49878950-T-G
MyVariant Identifiers: chr18:g.47405320T>G (hg19) chr18:g.49878950T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49878950T>G , CM000680.2:g.49878950T>G GRCh38
NC_000018.9:g.47405320T>G , CM000680.1:g.47405320T>G GRCh37
NC_000018.8:g.45659318T>G NCBI36
NG_012925.1:g.321132A>C
NG_012925.2:g.321132A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697218.1:n.25A>C
ENST00000697219.1:c.3068A>C
ENST00000285039.12:c.3271A>C MANE Select ENSP00000285039.6:p.Ile1091Leu
ENST00000285039.11:c.3271A>C ENSP00000285039.6:p.Ile1091Leu
ENST00000324581.10:c.700A>C ENSP00000315531.7:p.Ile234Leu
ENST00000589568.1:n.472A>C
ENST00000616031.4:c.1907-42217A>C ENSP00000479038.1:n.1907-42217A>C
NM_001080467.2:c.3271A>C NP_001073936.1:p.Ile1091Leu
NM_001080467.3:c.3271A>C MANE Select NP_001073936.1:p.Ile1091Leu
Search 100 bp 5'
Search 100 bp 3'