Canonical Allele Identifier: CA629925605

Gene: MYO5B

Linked Data

• dbSNP Id: rs1336593940
• gnomAD v2: 18-47405312-T-C
• gnomAD v3: 18-49878942-T-C
• gnomAD v4: 18-49878942-T-C
• MyVariant Identifiers: chr18:g.47405312T>C (hg19) ; chr18:g.49878942T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49878942T>C , CM000680.2:g.49878942T>C	GRCh38
NC_000018.9:g.47405312T>C , CM000680.1:g.47405312T>C	GRCh37
NC_000018.8:g.45659310T>C	NCBI36
NG_012925.1:g.321140A>G
NG_012925.2:g.321140A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697218.1:n.33A>G
ENST00000697219.1:c.3073+3A>G
ENST00000285039.12:c.3276+3A>G MANE Select	ENSP00000285039.6:n.3276+3A>G
ENST00000285039.11:c.3276+3A>G	ENSP00000285039.6:n.3276+3A>G
ENST00000324581.10:c.705+3A>G	ENSP00000315531.7:n.705+3A>G
ENST00000589568.1:n.477+3A>G
ENST00000616031.4:c.1907-42209A>G	ENSP00000479038.1:n.1907-42209A>G
NM_001080467.2:c.3276+3A>G	NP_001073936.1:n.3276+3A>G
NM_001080467.3:c.3276+3A>G MANE Select	NP_001073936.1:n.3276+3A>G