Canonical Allele Identifier: CA013849
Gene: MYL3 HGNC NCBI
COSMIC:
COSM4441760 (not active)
MyVariant.info:
GRCh38 chr3:g.46859496G>A
GRCh37 chr3:g.46900986G>A
Revel Score:
ENST00000395869 0.872
ENST00000292327 (MANE Select) 0.872
gnomAD v2:
3:46900986 G / A
gnomAD v3:
3:46859496 G / A
gnomAD v4:
chr3-46859496-G-A
Joint Max Group AF 0.00004372 (AFR)
Genomes Max Group AF 0.00006281 (AFR)
Exomes Max Group AF 0.00000455 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46859496G>A , CM000665.2:g.46859496G>A GRCh38
NC_000003.11:g.46900986G>A , CM000665.1:g.46900986G>A GRCh37
NC_000003.10:g.46875990G>A NCBI36
NG_007555.2:g.27674C>T , LRG_395:g.27674C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000431168.2:c.460C>T ENSP00000393455.2:p.Arg154Cys
ENST00000292327.6:c.460C>T MANE Select ENSP00000292327.4:p.Arg154Cys
ENST00000653454.1:c.460C>T ENSP00000499624.1:p.Arg154Cys
ENST00000654597.1:c.460C>T ENSP00000499406.1:p.Arg154Cys
ENST00000655244.1:n.682C>T
ENST00000662933.1:c.460C>T ENSP00000499577.1:p.Arg154Cys
ENST00000664891.1:n.418C>T
ENST00000292327.4:c.460C>T ENSP00000292327.4:p.Arg154Cys
ENST00000395869.5:c.460C>T ENSP00000379210.1:p.Arg154Cys
NM_000258.2:c.460C>T , LRG_395t1:c.460C>T NP_000249.1:p.Arg154Cys
NM_000258.3:c.460C>T MANE Select NP_000249.1:p.Arg154Cys
Search 100 bp 5'
Search 100 bp 3'