Canonical Allele Identifier: CA352498523

Gene: MYL3

Linked Data

• ClinVar Variation Id: 3073820
• ClinVar RCV Id: RCV004016826
• dbSNP Id: rs730880960
• gnomAD v2: 3-46902280-G-T
• gnomAD v4: 3-46860790-G-T
• MyVariant Identifiers: chr3:g.46902280G>T (hg19) ; chr3:g.46860790G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46860790G>T , CM000665.2:g.46860790G>T	GRCh38
NC_000003.11:g.46902280G>T , CM000665.1:g.46902280G>T	GRCh37
NC_000003.10:g.46877284G>T	NCBI36
NG_007555.2:g.26380C>A , LRG_395:g.26380C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.193C>A	ENSP00000393455.2:p.Pro65Thr
ENST00000292327.6:c.193C>A MANE Select	ENSP00000292327.4:p.Pro65Thr
ENST00000653454.1:c.193C>A	ENSP00000499624.1:p.Pro65Thr
ENST00000654597.1:c.193C>A	ENSP00000499406.1:p.Pro65Thr
ENST00000655244.1:n.415C>A
ENST00000662933.1:c.193C>A	ENSP00000499577.1:p.Pro65Thr
ENST00000664891.1:n.151C>A
ENST00000292327.4:c.193C>A	ENSP00000292327.4:p.Pro65Thr
ENST00000395869.5:c.193C>A	ENSP00000379210.1:p.Pro65Thr
NM_000258.2:c.193C>A , LRG_395t1:c.193C>A	NP_000249.1:p.Pro65Thr
NM_000258.3:c.193C>A MANE Select	NP_000249.1:p.Pro65Thr