Canonical Allele Identifier: CA013840
Gene: MYL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 31782
dbSNP Id: rs199474705

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46859502C>T , CM000665.2:g.46859502C>T GRCh38
NC_000003.11:g.46900992C>T , CM000665.1:g.46900992C>T GRCh37
NC_000003.10:g.46875996C>T NCBI36
NG_007555.2:g.27668G>A , LRG_395:g.27668G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000431168.2:c.454G>A ENSP00000393455.2:p.Glu152Lys
ENST00000292327.6:c.454G>A MANE Select ENSP00000292327.4:p.Glu152Lys
ENST00000653454.1:c.454G>A ENSP00000499624.1:p.Glu152Lys
ENST00000654597.1:c.454G>A ENSP00000499406.1:p.Glu152Lys
ENST00000655244.1:n.676G>A
ENST00000662933.1:c.454G>A ENSP00000499577.1:p.Glu152Lys
ENST00000664891.1:n.412G>A
ENST00000292327.4:c.454G>A ENSP00000292327.4:p.Glu152Lys
ENST00000395869.5:c.454G>A ENSP00000379210.1:p.Glu152Lys
NM_000258.2:c.454G>A , LRG_395t1:c.454G>A NP_000249.1:p.Glu152Lys
NM_000258.3:c.454G>A MANE Select NP_000249.1:p.Glu152Lys