Canonical Allele Identifier: CA352498049

Gene: MYL3

Linked Data

• ClinVar Variation Id: 3073582
• ClinVar RCV Id: RCV004016588
• gnomAD v4: 3-46860724-G-A
• MyVariant Identifiers: chr3:g.46902214G>A (hg19) ; chr3:g.46860724G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46860724G>A , CM000665.2:g.46860724G>A	GRCh38
NC_000003.11:g.46902214G>A , CM000665.1:g.46902214G>A	GRCh37
NC_000003.10:g.46877218G>A	NCBI36
NG_007555.2:g.26446C>T , LRG_395:g.26446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.259C>T	ENSP00000393455.2:p.Pro87Ser
ENST00000292327.6:c.259C>T MANE Select	ENSP00000292327.4:p.Pro87Ser
ENST00000653454.1:c.259C>T	ENSP00000499624.1:p.Pro87Ser
ENST00000654597.1:c.259C>T	ENSP00000499406.1:p.Pro87Ser
ENST00000655244.1:n.481C>T
ENST00000662933.1:c.259C>T	ENSP00000499577.1:p.Pro87Ser
ENST00000664891.1:n.217C>T
ENST00000292327.4:c.259C>T	ENSP00000292327.4:p.Pro87Ser
ENST00000395869.5:c.259C>T	ENSP00000379210.1:p.Pro87Ser
NM_000258.2:c.259C>T , LRG_395t1:c.259C>T	NP_000249.1:p.Pro87Ser
NM_000258.3:c.259C>T MANE Select	NP_000249.1:p.Pro87Ser