Canonical Allele Identifier: CA044996

Gene: MYL3

Linked Data

• dbSNP Id: rs750775381
• ExAC: 3:46899810 C / T
• gnomAD v2: 3-46899810-C-T
• gnomAD v3: 3-46858320-C-T
• gnomAD v4: 3-46858320-C-T
• MyVariant Identifiers: chr3:g.46899810C>T (hg19) ; chr3:g.46858320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46858320C>T , CM000665.2:g.46858320C>T	GRCh38
NC_000003.11:g.46899810C>T , CM000665.1:g.46899810C>T	GRCh37
NC_000003.10:g.46874814C>T	NCBI36
NG_007555.2:g.28850G>A , LRG_395:g.28850G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000431168.2:c.560-48G>A	ENSP00000393455.2:n.560-48G>A
ENST00000292327.6:c.560-48G>A MANE Select	ENSP00000292327.4:n.560-48G>A
ENST00000653454.1:c.560-48G>A	ENSP00000499624.1:n.560-48G>A
ENST00000654597.1:c.560-48G>A	ENSP00000499406.1:n.560-48G>A
ENST00000655244.1:n.767-48G>A
ENST00000662933.1:c.560-48G>A	ENSP00000499577.1:n.560-48G>A
ENST00000664891.1:n.518-48G>A
ENST00000292327.4:c.560-48G>A	ENSP00000292327.4:n.560-48G>A
ENST00000395869.5:c.560-48G>A	ENSP00000379210.1:n.560-48G>A
NM_000258.2:c.560-48G>A , LRG_395t1:c.560-48G>A	NP_000249.1:n.560-48G>A
NM_000258.3:c.560-48G>A MANE Select	NP_000249.1:n.560-48G>A