Canonical Allele Identifier: CA013996

Gene: MYL3

Linked Data

• ClinVar Variation Id: 181449
• ClinVar RCV Id: RCV000158962 ; RCV000800210
• dbSNP Id: rs730880962
• MyVariant Identifiers: chr3:g.46899915A>T (hg19) ; chr3:g.46858425A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46858425A>T , CM000665.2:g.46858425A>T	GRCh38
NC_000003.11:g.46899915A>T , CM000665.1:g.46899915A>T	GRCh37
NC_000003.10:g.46874919A>T	NCBI36
NG_007555.2:g.28745T>A , LRG_395:g.28745T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000431168.2:c.518T>A	ENSP00000393455.2:p.Met173Lys
ENST00000292327.6:c.518T>A MANE Select	ENSP00000292327.4:p.Met173Lys
ENST00000653454.1:c.518T>A	ENSP00000499624.1:p.Met173Lys
ENST00000654597.1:c.518T>A	ENSP00000499406.1:p.Met173Lys
ENST00000655244.1:n.725T>A
ENST00000662933.1:c.518T>A	ENSP00000499577.1:p.Met173Lys
ENST00000664891.1:n.476T>A
ENST00000292327.4:c.518T>A	ENSP00000292327.4:p.Met173Lys
ENST00000395869.5:c.518T>A	ENSP00000379210.1:p.Met173Lys
NM_000258.2:c.518T>A , LRG_395t1:c.518T>A	NP_000249.1:p.Met173Lys
NM_000258.3:c.518T>A MANE Select	NP_000249.1:p.Met173Lys