Canonical Allele Identifier: CA044292

Gene: MYL3

Linked Data

• ClinVar Variation Id: 227623
• ClinVar RCV Id: RCV000216208 ; RCV000463239 ; RCV000618975 ; RCV001182230
• dbSNP Id: rs148365503
• ExAC: 3:46900969 C / A
• gnomAD v2: 3-46900969-C-A
• gnomAD v3: 3-46859479-C-A
• gnomAD v4: 3-46859479-C-A
• MyVariant Identifiers: chr3:g.46900969C>A (hg19) ; chr3:g.46859479C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46859479C>A , CM000665.2:g.46859479C>A	GRCh38
NC_000003.11:g.46900969C>A , CM000665.1:g.46900969C>A	GRCh37
NC_000003.10:g.46875973C>A	NCBI36
NG_007555.2:g.27691G>T , LRG_395:g.27691G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.477G>T	ENSP00000393455.2:p.Thr159=
ENST00000292327.6:c.477G>T MANE Select	ENSP00000292327.4:p.Thr159=
ENST00000653454.1:c.477G>T	ENSP00000499624.1:p.Thr159=
ENST00000654597.1:c.477G>T	ENSP00000499406.1:p.Thr159=
ENST00000655244.1:n.699G>T
ENST00000662933.1:c.477G>T	ENSP00000499577.1:p.Thr159=
ENST00000664891.1:n.435G>T
ENST00000292327.4:c.477G>T	ENSP00000292327.4:p.Thr159=
ENST00000395869.5:c.477G>T	ENSP00000379210.1:p.Thr159=
NM_000258.2:c.477G>T , LRG_395t1:c.477G>T	NP_000249.1:p.Thr159=
NM_000258.3:c.477G>T MANE Select	NP_000249.1:p.Thr159=