Canonical Allele Identifier: CA10647690
Gene: MYO5B HGNC NCBI
SNHG22 HGNC NCBI

Linked Data

ClinVar Variation Id: 326930
ClinVar RCV Id: RCV000299492
dbSNP Id: rs113215300
gnomAD v2: 18-47349739-G-T
gnomAD v3: 18-49823369-G-T
gnomAD v4: 18-49823369-G-T
MyVariant Identifiers: chr18:g.47349739G>T (hg19) chr18:g.49823369G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49823369G>T , CM000680.2:g.49823369G>T GRCh38
NC_000018.9:g.47349739G>T , CM000680.1:g.47349739G>T GRCh37
NC_000018.8:g.45603737G>T NCBI36
NG_012925.1:g.376713C>A
NG_012925.2:g.376713C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000697217.1:c.5013C>A (MYO5B) ENSP00000513187.1:n.5013C>A
ENST00000697218.1:n.5553C>A (MYO5B)
ENST00000697219.1:c.8383C>A (MYO5B)
ENST00000285039.12:c.*3102C>A (MYO5B) MANE Select ENSP00000285039.6:n.*3102C>A
ENST00000285039.11:c.*3102C>A (MYO5B) ENSP00000285039.6:n.*3102C>A
ENST00000590532.2:c.551+3067C>A ENSP00000467396.2:n.551+3067C>A
NM_001080467.2:c.*3102C>A (MYO5B) NP_001073936.1:n.*3102C>A
NR_117096.1:n.40+9307G>T (SNHG22)
NM_001080467.3:c.*3102C>A (MYO5B) MANE Select NP_001073936.1:n.*3102C>A
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