Canonical Allele Identifier: CA14445156
Community Standard Title: NM_002472.3(MYH8):c.5664+223C>T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10391659G>A , CM000679.2:g.10391659G>A GRCh38
NC_000017.10:g.10294976G>A , CM000679.1:g.10294976G>A GRCh37
NC_000017.9:g.10235701G>A NCBI36
NG_013015.1:g.35292C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002472.3:c.5664+223C>T (MYH8) MANE Select NP_002463.2:n.5664+223C>T
ENST00000403437.2:c.5664+223C>T (MYH8) MANE Select ENSP00000384330.2:n.5664+223C>T
NM_002472.2:c.5664+223C>T (MYH8) NP_002463.2:n.5664+223C>T
NR_125367.1:n.76+8452G>A (MYHAS)
XM_011523873.1:c.5760+223C>T (MYH8) XP_011522175.1:n.5760+223C>T
XM_011523874.1:c.5760+223C>T (MYH8) XP_011522176.1:n.5760+223C>T