Canonical Allele Identifier: CA013575
Gene: MYL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 43121
dbSNP Id: rs139794067
gnomAD v2: 3-46902303-G-T
gnomAD v3: 3-46860813-G-T
gnomAD v4: 3-46860813-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46860813G>T , CM000665.2:g.46860813G>T GRCh38
NC_000003.11:g.46902303G>T , CM000665.1:g.46902303G>T GRCh37
NC_000003.10:g.46877307G>T NCBI36
NG_007555.2:g.26357C>A , LRG_395:g.26357C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000431168.2:c.170C>A ENSP00000393455.2:p.Ala57Asp
ENST00000292327.6:c.170C>A MANE Select ENSP00000292327.4:p.Ala57Asp
ENST00000653454.1:c.170C>A ENSP00000499624.1:p.Ala57Asp
ENST00000654597.1:c.170C>A ENSP00000499406.1:p.Ala57Asp
ENST00000655244.1:n.392C>A
ENST00000662933.1:c.170C>A ENSP00000499577.1:p.Ala57Asp
ENST00000664891.1:n.128C>A
ENST00000292327.4:c.170C>A ENSP00000292327.4:p.Ala57Asp
ENST00000395869.5:c.170C>A ENSP00000379210.1:p.Ala57Asp
NM_000258.2:c.170C>A , LRG_395t1:c.170C>A NP_000249.1:p.Ala57Asp
NM_000258.3:c.170C>A MANE Select NP_000249.1:p.Ala57Asp