Canonical Allele Identifier: CA398122652

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10409158C>A , CM000679.2:g.10409158C>A GRCh38
NC_000017.10:g.10312475C>A , CM000679.1:g.10312475C>A GRCh37
NC_000017.9:g.10253200C>A NCBI36
NG_013015.1:g.17793G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403437.2:c.1904G>T (MYH8) MANE Select ENSP00000384330.2:p.Ser635Ile
NM_002472.2:c.1904G>T (MYH8) NP_002463.2:p.Ser635Ile
NR_125367.1:n.167+2920C>A (MYHAS)
XM_011523873.1:c.1904G>T (MYH8) XP_011522175.1:p.Ser635Ile
XM_011523874.1:c.1904G>T (MYH8) XP_011522176.1:p.Ser635Ile
NM_002472.3:c.1904G>T (MYH8) MANE Select NP_002463.2:p.Ser635Ile