Canonical Allele Identifier: CA398122651

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10409157G>T , CM000679.2:g.10409157G>T GRCh38
NC_000017.10:g.10312474G>T , CM000679.1:g.10312474G>T GRCh37
NC_000017.9:g.10253199G>T NCBI36
NG_013015.1:g.17794C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000403437.2:c.1905C>A (MYH8) MANE Select ENSP00000384330.2:p.Ser635Arg
NM_002472.2:c.1905C>A (MYH8) NP_002463.2:p.Ser635Arg
NR_125367.1:n.167+2919G>T (MYHAS)
XM_011523873.1:c.1905C>A (MYH8) XP_011522175.1:p.Ser635Arg
XM_011523874.1:c.1905C>A (MYH8) XP_011522176.1:p.Ser635Arg
NM_002472.3:c.1905C>A (MYH8) MANE Select NP_002463.2:p.Ser635Arg