Canonical Allele Identifier: CA503860971
Gene: MYO5B HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.47405324G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.49878954G>C , CM000680.2:g.49878954G>C GRCh38
NC_000018.9:g.47405324G>C , CM000680.1:g.47405324G>C GRCh37
NC_000018.8:g.45659322G>C NCBI36
NG_012925.1:g.321128C>G
NG_012925.2:g.321128C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000697218.1:n.21C>G
ENST00000697219.1:c.3064C>G
ENST00000285039.12:c.3267C>G MANE Select ENSP00000285039.6:p.Thr1089=
ENST00000285039.11:c.3267C>G ENSP00000285039.6:p.Thr1089=
ENST00000324581.10:c.696C>G ENSP00000315531.7:p.Thr232=
ENST00000589568.1:n.468C>G
ENST00000616031.4:c.1907-42221C>G ENSP00000479038.1:n.1907-42221C>G
NM_001080467.2:c.3267C>G NP_001073936.1:p.Thr1089=
NM_001080467.3:c.3267C>G MANE Select NP_001073936.1:p.Thr1089=
Search 100 bp 5'
Search 100 bp 3'