Canonical Allele Identifier: CA389037387

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23416053A>T , CM000676.2:g.23416053A>T GRCh38
NC_000014.8:g.23885262A>T , CM000676.1:g.23885262A>T GRCh37
NC_000014.7:g.22955102A>T NCBI36
NG_007884.1:g.24609T>A , LRG_384:g.24609T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4904T>A (MYH7) MANE Select ENSP00000347507.3:p.Met1635Lys
ENST00000355349.3:c.4904T>A (MYH7) ENSP00000347507.3:p.Met1635Lys
NM_000257.3:c.4904T>A (MYH7) NP_000248.2:p.Met1635Lys
NR_126491.1:n.314A>T (MHRT)
XM_017021340.1:c.4904T>A (MYH7) XP_016876829.1:p.Met1635Lys
NM_000257.4:c.4904T>A (MYH7) MANE Select NP_000248.2:p.Met1635Lys