Canonical Allele Identifier: CA2123418277
Gene: MYH6 HGNC NCBI

Linked Data

dbSNP Id: rs1891401876
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23396561A>G , CM000676.2:g.23396561A>G GRCh38
NC_000014.8:g.23865770A>G , CM000676.1:g.23865770A>G GRCh37
NC_000014.7:g.22935610A>G NCBI36
NG_023444.1:g.16717T>C , LRG_389:g.16717T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.2292+133T>C MANE Select ENSP00000386041.3:n.2292+133T>C
ENST00000356287.3:c.2292+133T>C ENSP00000348634.3:n.2292+133T>C
ENST00000405093.7:c.2292+133T>C ENSP00000386041.3:n.2292+133T>C
NM_002471.3:c.2292+133T>C , LRG_389t1:c.2292+133T>C NP_002462.2:n.2292+133T>C
NM_002471.4:c.2292+133T>C MANE Select NP_002462.2:n.2292+133T>C
Search 100 bp 5'
Search 100 bp 3'