Canonical Allele Identifier: CA013774
Gene: MYL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 14063
dbSNP Id: rs104893750
gnomAD v2: 3-46901019-C-T
gnomAD v3: 3-46859529-C-T
gnomAD v4: 3-46859529-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46859529C>T , CM000665.2:g.46859529C>T GRCh38
NC_000003.11:g.46901019C>T , CM000665.1:g.46901019C>T GRCh37
NC_000003.10:g.46876023C>T NCBI36
NG_007555.2:g.27641G>A , LRG_395:g.27641G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000431168.2:c.427G>A ENSP00000393455.2:p.Glu143Lys
ENST00000292327.6:c.427G>A MANE Select ENSP00000292327.4:p.Glu143Lys
ENST00000653454.1:c.427G>A ENSP00000499624.1:p.Glu143Lys
ENST00000654597.1:c.427G>A ENSP00000499406.1:p.Glu143Lys
ENST00000655244.1:n.649G>A
ENST00000662933.1:c.427G>A ENSP00000499577.1:p.Glu143Lys
ENST00000664891.1:n.385G>A
ENST00000292327.4:c.427G>A ENSP00000292327.4:p.Glu143Lys
ENST00000395869.5:c.427G>A ENSP00000379210.1:p.Glu143Lys
NM_000258.2:c.427G>A , LRG_395t1:c.427G>A NP_000249.1:p.Glu143Lys
NM_000258.3:c.427G>A MANE Select NP_000249.1:p.Glu143Lys