Canonical Allele Identifier: CA343725545

Linked Data

ClinVar Variation Id: 2252692
ClinVar RCV Id: RCV002802238

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636532A>T , CM000663.2:g.171636532A>T GRCh38
NC_000001.10:g.171605672A>T , CM000663.1:g.171605672A>T GRCh37
NC_000001.9:g.169872295A>T NCBI36
NG_008859.1:g.21102T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.908T>A (MYOC) MANE Select ENSP00000037502.5:p.Leu303His
ENST00000637303.1:c.235-2098A>T (MYOCOS) ENSP00000490048.1:n.235-2098A>T
ENST00000638471.1:c.*246T>A (MYOC) ENSP00000491206.1:n.*246T>A
ENST00000037502.10:c.908T>A (MYOC) ENSP00000037502.5:p.Leu303His
ENST00000614688.1:c.908T>A (MYOC) ENSP00000478680.1:p.Leu303His
NM_000261.1:c.908T>A (MYOC) NP_000252.1:p.Leu303His
NM_000261.2:c.908T>A (MYOC) MANE Select NP_000252.1:p.Leu303His