Canonical Allele Identifier: CA7116068
Community Standard Title: NM_002471.4(MYH6):c.643-3T>C
Gene: MYH6 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23404391A>G , CM000676.2:g.23404391A>G GRCh38
NC_000014.8:g.23873600A>G , CM000676.1:g.23873600A>G GRCh37
NC_000014.7:g.22943440A>G NCBI36
NG_023444.1:g.8887T>C , LRG_389:g.8887T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002471.4:c.643-3T>C MANE Select NP_002462.2:n.643-3T>C
ENST00000405093.9:c.643-3T>C MANE Select ENSP00000386041.3:n.643-3T>C
NM_002471.3:c.643-3T>C , LRG_389t1:c.643-3T>C NP_002462.2:n.643-3T>C
ENST00000356287.3:c.643-3T>C ENSP00000348634.3:n.643-3T>C
ENST00000405093.7:c.643-3T>C ENSP00000386041.3:n.643-3T>C
ENST00000557461.1:n.697-3T>C
ENST00000557461.2:n.710-3T>C
Search 100 bp 5'
Search 100 bp 3'