Canonical Allele Identifier: CA913190873
Community Standard Title: NM_002471.4(MYH6):c.503-8T>C
Gene: MYH6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23405135A>G , CM000676.2:g.23405135A>G GRCh38
NC_000014.8:g.23874344A>G , CM000676.1:g.23874344A>G GRCh37
NC_000014.7:g.22944184A>G NCBI36
NG_023444.1:g.8143T>C , LRG_389:g.8143T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002471.4:c.503-8T>C MANE Select NP_002462.2:n.503-8T>C
ENST00000405093.9:c.503-8T>C MANE Select ENSP00000386041.3:n.503-8T>C
NM_002471.3:c.503-8T>C , LRG_389t1:c.503-8T>C NP_002462.2:n.503-8T>C
ENST00000356287.3:c.503-8T>C ENSP00000348634.3:n.503-8T>C
ENST00000405093.7:c.503-8T>C ENSP00000386041.3:n.503-8T>C
ENST00000557461.1:n.557-8T>C
ENST00000557461.2:n.570-8T>C
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