Canonical Allele Identifier: CA434426517
Gene: LMOD3 HGNC NCBI

Linked Data

dbSNP Id: rs745597770
gnomAD v4: 3-69119365-G-A
MyVariant Identifiers: chr3:g.69168516G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69119365G>A , CM000665.2:g.69119365G>A GRCh38
NC_000003.11:g.69168516G>A , CM000665.1:g.69168516G>A GRCh37
NC_000003.10:g.69251206G>A NCBI36
NG_041828.1:g.8231C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000420581.7:c.990C>T MANE Select ENSP00000414670.3:p.Ile330=
ENST00000420581.6:c.990C>T ENSP00000414670.2:p.Ile330=
ENST00000475434.1:c.990C>T ENSP00000418645.1:p.Ile330=
ENST00000489031.5:c.990C>T ENSP00000417210.1:p.Ile330=
NM_001304418.1:c.990C>T NP_001291347.1:p.Ile330=
NM_198271.4:c.990C>T NP_938012.2:p.Ile330=
NM_001304418.3:c.990C>T NP_001291347.1:p.Ile330=
NM_198271.5:c.990C>T MANE Select NP_938012.2:p.Ile330=