Canonical Allele Identifier: CA343725721

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636563T>A , CM000663.2:g.171636563T>A GRCh38
NC_000001.10:g.171605703T>A , CM000663.1:g.171605703T>A GRCh37
NC_000001.9:g.169872326T>A NCBI36
NG_008859.1:g.21071A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.877A>T (MYOC) MANE Select ENSP00000037502.5:p.Thr293Ser
ENST00000637303.1:c.235-2067T>A (MYOCOS) ENSP00000490048.1:n.235-2067T>A
ENST00000638471.1:c.*215A>T (MYOC) ENSP00000491206.1:n.*215A>T
ENST00000037502.10:c.877A>T (MYOC) ENSP00000037502.5:p.Thr293Ser
ENST00000614688.1:c.877A>T (MYOC) ENSP00000478680.1:p.Thr293Ser
NM_000261.1:c.877A>T (MYOC) NP_000252.1:p.Thr293Ser
NM_000261.2:c.877A>T (MYOC) MANE Select NP_000252.1:p.Thr293Ser