Canonical Allele Identifier: CA287735802
Community Standard Title: NM_002472.3(MYH8):c.1148-235C>T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10412963G>A , CM000679.2:g.10412963G>A GRCh38
NC_000017.10:g.10316280G>A , CM000679.1:g.10316280G>A GRCh37
NC_000017.9:g.10257005G>A NCBI36
NG_013015.1:g.13988C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002472.3:c.1148-235C>T (MYH8) MANE Select NP_002463.2:n.1148-235C>T
ENST00000403437.2:c.1148-235C>T (MYH8) MANE Select ENSP00000384330.2:n.1148-235C>T
NM_002472.2:c.1148-235C>T (MYH8) NP_002463.2:n.1148-235C>T
NR_125367.1:n.167+6725G>A (MYHAS)
XM_011523873.1:c.1148-235C>T (MYH8) XP_011522175.1:n.1148-235C>T
XM_011523874.1:c.1148-235C>T (MYH8) XP_011522176.1:n.1148-235C>T