Canonical Allele Identifier: CA891116737
Gene: MYOC HGNC NCBI

Linked Data

dbSNP Id: rs1215994042
gnomAD v3: 1-171652652-T-C
gnomAD v4: 1-171652652-T-C
MyVariant Identifiers: chr1:g.171621792T>C (hg19) chr1:g.171652652T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652652T>C , CM000663.2:g.171652652T>C GRCh38
NC_000001.10:g.171621792T>C , CM000663.1:g.171621792T>C GRCh37
NC_000001.9:g.169888415T>C NCBI36
NG_008859.1:g.4982A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.-41A>G MANE Select ENSP00000037502.5:n.-41A>G
ENST00000037502.10:c.-41A>G ENSP00000037502.5:n.-41A>G
NM_000261.2:c.-41A>G MANE Select NP_000252.1:n.-41A>G
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