Canonical Allele Identifier: CA8960789

Gene: MYO5B

Linked Data

• dbSNP Id: rs758612678
• ExAC: 18:47405314 C / T
• gnomAD v2: 18-47405314-C-T
• gnomAD v4: 18-49878944-C-T
• MyVariant Identifiers: chr18:g.47405314C>T (hg19) ; chr18:g.49878944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.49878944C>T , CM000680.2:g.49878944C>T	GRCh38
NC_000018.9:g.47405314C>T , CM000680.1:g.47405314C>T	GRCh37
NC_000018.8:g.45659312C>T	NCBI36
NG_012925.1:g.321138G>A
NG_012925.2:g.321138G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697218.1:n.31G>A
ENST00000697219.1:c.3073+1G>A
ENST00000285039.12:c.3276+1G>A MANE Select	ENSP00000285039.6:n.3276+1G>A
ENST00000285039.11:c.3276+1G>A	ENSP00000285039.6:n.3276+1G>A
ENST00000324581.10:c.705+1G>A	ENSP00000315531.7:n.705+1G>A
ENST00000589568.1:n.477+1G>A
ENST00000616031.4:c.1907-42211G>A	ENSP00000479038.1:n.1907-42211G>A
NM_001080467.2:c.3276+1G>A	NP_001073936.1:n.3276+1G>A
NM_001080467.3:c.3276+1G>A MANE Select	NP_001073936.1:n.3276+1G>A