Canonical Allele Identifier: CA891116741

Gene: MYOC

Linked Data

• dbSNP Id: rs1448230112
• gnomAD v3: 1-171652686-C-T
• gnomAD v4: 1-171652686-C-T
• MyVariant Identifiers: chr1:g.171621826C>T (hg19) ; chr1:g.171652686C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171652686C>T , CM000663.2:g.171652686C>T	GRCh38
NC_000001.10:g.171621826C>T , CM000663.1:g.171621826C>T	GRCh37
NC_000001.9:g.169888449C>T	NCBI36
NG_008859.1:g.4948G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.-75G>A MANE Select	ENSP00000037502.5:n.-75G>A
NM_000261.2:c.-75G>A MANE Select	NP_000252.1:n.-75G>A