Canonical Allele Identifier: CA613317566
Community Standard Title: NM_002471.4(MYH6):c.2430-5G>A
Gene: MYH6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23394328C>T , CM000676.2:g.23394328C>T GRCh38
NC_000014.8:g.23863537C>T , CM000676.1:g.23863537C>T GRCh37
NC_000014.7:g.22933377C>T NCBI36
NG_023444.1:g.18950G>A , LRG_389:g.18950G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002471.4:c.2430-5G>A MANE Select NP_002462.2:n.2430-5G>A
ENST00000405093.9:c.2430-5G>A MANE Select ENSP00000386041.3:n.2430-5G>A
NM_002471.3:c.2430-5G>A , LRG_389t1:c.2430-5G>A NP_002462.2:n.2430-5G>A
ENST00000356287.3:c.2430-5G>A ENSP00000348634.3:n.2430-5G>A
ENST00000405093.7:c.2430-5G>A ENSP00000386041.3:n.2430-5G>A
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