Canonical Allele Identifier: CA73778004
Gene: MYL3 HGNC NCBI

Linked Data

dbSNP Id: rs1022379832
gnomAD v3: 3-46859419-G-T
gnomAD v4: 3-46859419-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46859419G>T , CM000665.2:g.46859419G>T GRCh38
NC_000003.11:g.46900909G>T , CM000665.1:g.46900909G>T GRCh37
NC_000003.10:g.46875913G>T NCBI36
NG_007555.2:g.27751C>A , LRG_395:g.27751C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000431168.2:c.481+56C>A ENSP00000393455.2:n.481+56C>A
ENST00000292327.6:c.481+56C>A MANE Select ENSP00000292327.4:n.481+56C>A
ENST00000653454.1:c.481+56C>A ENSP00000499624.1:n.481+56C>A
ENST00000654597.1:c.481+56C>A ENSP00000499406.1:n.481+56C>A
ENST00000655244.1:n.703+56C>A
ENST00000662933.1:c.481+56C>A ENSP00000499577.1:n.481+56C>A
ENST00000664891.1:n.439+56C>A
ENST00000292327.4:c.481+56C>A ENSP00000292327.4:n.481+56C>A
ENST00000395869.5:c.481+56C>A ENSP00000379210.1:n.481+56C>A
NM_000258.2:c.481+56C>A , LRG_395t1:c.481+56C>A NP_000249.1:n.481+56C>A
NM_000258.3:c.481+56C>A MANE Select NP_000249.1:n.481+56C>A