Canonical Allele Identifier: CA043588

Gene: MYL3

Linked Data

• ClinVar Variation Id: 2153844
• ClinVar RCV Id: RCV003081485
• dbSNP Id: rs774123719
• ExAC: 3:46901154 C / T
• gnomAD v2: 3-46901154-C-T
• gnomAD v4: 3-46859664-C-T
• MyVariant Identifiers: chr3:g.46901154C>T (hg19) ; chr3:g.46859664C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46859664C>T , CM000665.2:g.46859664C>T	GRCh38
NC_000003.11:g.46901154C>T , CM000665.1:g.46901154C>T	GRCh37
NC_000003.10:g.46876158C>T	NCBI36
NG_007555.2:g.27506G>A , LRG_395:g.27506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.308-16G>A	ENSP00000393455.2:n.308-16G>A
ENST00000292327.6:c.308-16G>A MANE Select	ENSP00000292327.4:n.308-16G>A
ENST00000653454.1:c.308-16G>A	ENSP00000499624.1:n.308-16G>A
ENST00000654597.1:c.308-16G>A	ENSP00000499406.1:n.308-16G>A
ENST00000655244.1:n.530-16G>A
ENST00000662933.1:c.308-16G>A	ENSP00000499577.1:n.308-16G>A
ENST00000664891.1:n.266-16G>A
ENST00000292327.4:c.308-16G>A	ENSP00000292327.4:n.308-16G>A
ENST00000395869.5:c.308-16G>A	ENSP00000379210.1:n.308-16G>A
NM_000258.2:c.308-16G>A , LRG_395t1:c.308-16G>A	NP_000249.1:n.308-16G>A
NM_000258.3:c.308-16G>A MANE Select	NP_000249.1:n.308-16G>A