Canonical Allele Identifier: CA185912
Gene: MYO5B HGNC NCBI

Linked Data

ClinVar Variation Id: 180212
ClinVar RCV Id: RCV000157065 RCV001857551
dbSNP Id: rs727505394
gnomAD v2: 18-47462620-A-T
gnomAD v3: 18-49936250-A-T
gnomAD v4: 18-49936250-A-T
MyVariant Identifiers: chr18:g.47462620A>T (hg19) chr18:g.49936250A>T (hg38)
PubMed: PMID:18724368
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49936250A>T , CM000680.2:g.49936250A>T GRCh38
NC_000018.9:g.47462620A>T , CM000680.1:g.47462620A>T GRCh37
NC_000018.8:g.45716618A>T NCBI36
NG_012925.1:g.263832T>A
NG_012925.2:g.263832T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000697219.1:c.1800+2T>A
ENST00000285039.12:c.2003+2T>A MANE Select ENSP00000285039.6:n.2003+2T>A
ENST00000285039.11:c.2003+2T>A ENSP00000285039.6:n.2003+2T>A
ENST00000616031.4:c.1906+96T>A ENSP00000479038.1:n.1906+96T>A
NM_001080467.2:c.2003+2T>A NP_001073936.1:n.2003+2T>A
NM_001080467.3:c.2003+2T>A MANE Select NP_001073936.1:n.2003+2T>A
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