Canonical Allele Identifier: CA013963

Gene: MYL3

Linked Data

• ClinVar Variation Id: 164491
• ClinVar RCV Id: RCV000151371 ; RCV000530942 ; RCV000621707 ; RCV000777989 ; RCV000625226 ; RCV001576618
• dbSNP Id: rs148310342
• ExAC: 3:46904877 C / G
• gnomAD v2: 3-46904877-C-G
• gnomAD v3: 3-46863387-C-G
• gnomAD v4: 3-46863387-C-G
• MyVariant Identifiers: chr3:g.46904877C>G (hg19) ; chr3:g.46863387C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46863387C>G , CM000665.2:g.46863387C>G	GRCh38
NC_000003.11:g.46904877C>G , CM000665.1:g.46904877C>G	GRCh37
NC_000003.10:g.46879881C>G	NCBI36
NG_007555.2:g.23783G>C , LRG_395:g.23783G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.4G>C	ENSP00000393455.2:p.Ala2Pro
ENST00000292327.6:c.4G>C MANE Select	ENSP00000292327.4:p.Ala2Pro
ENST00000653454.1:c.4G>C	ENSP00000499624.1:p.Ala2Pro
ENST00000654597.1:c.4G>C	ENSP00000499406.1:p.Ala2Pro
ENST00000662933.1:c.4G>C	ENSP00000499577.1:p.Ala2Pro
ENST00000292327.4:c.4G>C	ENSP00000292327.4:p.Ala2Pro
ENST00000395869.5:c.4G>C	ENSP00000379210.1:p.Ala2Pro
ENST00000431168.1:c.4G>C	ENSP00000393455.1:p.Ala2Pro
NM_000258.2:c.4G>C , LRG_395t1:c.4G>C	NP_000249.1:p.Ala2Pro
NM_000258.3:c.4G>C MANE Select	NP_000249.1:p.Ala2Pro