Canonical Allele Identifier: CA044066

Gene: MYL3

Linked Data

• dbSNP Id: rs763675765
• ExAC: 3:46901038 C / A
• gnomAD v2: 3-46901038-C-A
• gnomAD v4: 3-46859548-C-A
• MyVariant Identifiers: chr3:g.46901038C>A (hg19) ; chr3:g.46859548C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46859548C>A , CM000665.2:g.46859548C>A	GRCh38
NC_000003.11:g.46901038C>A , CM000665.1:g.46901038C>A	GRCh37
NC_000003.10:g.46876042C>A	NCBI36
NG_007555.2:g.27622G>T , LRG_395:g.27622G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.408G>T	ENSP00000393455.2:p.Gly136=
ENST00000292327.6:c.408G>T MANE Select	ENSP00000292327.4:p.Gly136=
ENST00000653454.1:c.408G>T	ENSP00000499624.1:p.Gly136=
ENST00000654597.1:c.408G>T	ENSP00000499406.1:p.Gly136=
ENST00000655244.1:n.630G>T
ENST00000662933.1:c.408G>T	ENSP00000499577.1:p.Gly136=
ENST00000664891.1:n.366G>T
ENST00000292327.4:c.408G>T	ENSP00000292327.4:p.Gly136=
ENST00000395869.5:c.408G>T	ENSP00000379210.1:p.Gly136=
NM_000258.2:c.408G>T , LRG_395t1:c.408G>T	NP_000249.1:p.Gly136=
NM_000258.3:c.408G>T MANE Select	NP_000249.1:p.Gly136=