Canonical Allele Identifier: CA352498688
Gene: MYL3 HGNC NCBI

Linked Data

gnomAD v4: 3-46860820-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46860820T>C , CM000665.2:g.46860820T>C GRCh38
NC_000003.11:g.46902310T>C , CM000665.1:g.46902310T>C GRCh37
NC_000003.10:g.46877314T>C NCBI36
NG_007555.2:g.26350A>G , LRG_395:g.26350A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000431168.2:c.163A>G ENSP00000393455.2:p.Lys55Glu
ENST00000292327.6:c.163A>G MANE Select ENSP00000292327.4:p.Lys55Glu
ENST00000653454.1:c.163A>G ENSP00000499624.1:p.Lys55Glu
ENST00000654597.1:c.163A>G ENSP00000499406.1:p.Lys55Glu
ENST00000655244.1:n.385A>G
ENST00000662933.1:c.163A>G ENSP00000499577.1:p.Lys55Glu
ENST00000664891.1:n.121A>G
ENST00000292327.4:c.163A>G ENSP00000292327.4:p.Lys55Glu
ENST00000395869.5:c.163A>G ENSP00000379210.1:p.Lys55Glu
NM_000258.2:c.163A>G , LRG_395t1:c.163A>G NP_000249.1:p.Lys55Glu
NM_000258.3:c.163A>G MANE Select NP_000249.1:p.Lys55Glu