Canonical Allele Identifier: CA014094

Gene: MYL3

Linked Data

• ClinVar Variation Id: 43130
• ClinVar RCV Id: RCV000036034 ; RCV000233955 ; RCV000241642 ; RCV000770183 ; RCV001200161 ; RCV001148456
• dbSNP Id: rs147584015
• ExAC: 3:46904800 A / G
• gnomAD v2: 3-46904800-A-G
• gnomAD v3: 3-46863310-A-G
• gnomAD v4: 3-46863310-A-G
• MyVariant Identifiers: chr3:g.46904800A>G (hg19) ; chr3:g.46863310A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46863310A>G , CM000665.2:g.46863310A>G	GRCh38
NC_000003.11:g.46904800A>G , CM000665.1:g.46904800A>G	GRCh37
NC_000003.10:g.46879804A>G	NCBI36
NG_007555.2:g.23860T>C , LRG_395:g.23860T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.81T>C	ENSP00000393455.2:p.Pro27=
ENST00000292327.6:c.81T>C MANE Select	ENSP00000292327.4:p.Pro27=
ENST00000653454.1:c.81T>C	ENSP00000499624.1:p.Pro27=
ENST00000654597.1:c.81T>C	ENSP00000499406.1:p.Pro27=
ENST00000662933.1:c.81T>C	ENSP00000499577.1:p.Pro27=
ENST00000292327.4:c.81T>C	ENSP00000292327.4:p.Pro27=
ENST00000395869.5:c.81T>C	ENSP00000379210.1:p.Pro27=
ENST00000431168.1:c.81T>C	ENSP00000393455.1:p.Pro27=
NM_000258.2:c.81T>C , LRG_395t1:c.81T>C	NP_000249.1:p.Pro27=
NM_000258.3:c.81T>C MANE Select	NP_000249.1:p.Pro27=