Canonical Allele Identifier: CA123770

Gene: MYF6

Linked Data

• ClinVar Variation Id: 14153
• ClinVar RCV Id: RCV000413227 ; RCV000988878 ; RCV003407334
• dbSNP Id: rs28928909
• ExAC: 12:81101832 G / T
• gnomAD v2: 12-81101832-G-T
• gnomAD v3: 12-80708053-G-T
• gnomAD v4: 12-80708053-G-T
• MyVariant Identifiers: chr12:g.81101832G>T (hg19) ; chr12:g.80708053G>T (hg38)
• PubMed: PMID:11053684

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80708053G>T , CM000674.2:g.80708053G>T	GRCh38
NC_000012.11:g.81101832G>T , CM000674.1:g.81101832G>T	GRCh37
NC_000012.10:g.79625963G>T	NCBI36
NG_021392.1:g.5425G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228641.4:c.334G>T MANE Select	ENSP00000228641.3:p.Ala112Ser
ENST00000228641.3:c.334G>T	ENSP00000228641.3:p.Ala112Ser
NM_002469.2:c.334G>T	NP_002460.1:p.Ala112Ser
NM_002469.3:c.334G>T MANE Select	NP_002460.1:p.Ala112Ser