Canonical Allele Identifier: CA343718707
Gene: MYOC HGNC NCBI

Linked Data

dbSNP Id: rs145393453
gnomAD v4: 1-171652289-G-T
MyVariant Identifiers: chr1:g.171621429G>T (hg19) chr1:g.171652289G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652289G>T , CM000663.2:g.171652289G>T GRCh38
NC_000001.10:g.171621429G>T , CM000663.1:g.171621429G>T GRCh37
NC_000001.9:g.169888052G>T NCBI36
NG_008859.1:g.5345C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.323C>A MANE Select ENSP00000037502.5:p.Ala108Asp
ENST00000638471.1:c.130+193C>A ENSP00000491206.1:n.130+193C>A
ENST00000037502.10:c.323C>A ENSP00000037502.5:p.Ala108Asp
ENST00000614688.1:c.323C>A ENSP00000478680.1:p.Ala108Asp
NM_000261.1:c.323C>A NP_000252.1:p.Ala108Asp
NM_000261.2:c.323C>A MANE Select NP_000252.1:p.Ala108Asp
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