Canonical Allele Identifier: CA907609125

Gene: MYL3

Linked Data

• dbSNP Id: rs1212805236
• gnomAD v3: 3-46858333-C-G
• gnomAD v4: 3-46858333-C-G
• MyVariant Identifiers: chr3:g.46899823C>G (hg19) ; chr3:g.46858333C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46858333C>G , CM000665.2:g.46858333C>G	GRCh38
NC_000003.11:g.46899823C>G , CM000665.1:g.46899823C>G	GRCh37
NC_000003.10:g.46874827C>G	NCBI36
NG_007555.2:g.28837G>C , LRG_395:g.28837G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.559+51G>C	ENSP00000393455.2:n.559+51G>C
ENST00000292327.6:c.559+51G>C MANE Select	ENSP00000292327.4:n.559+51G>C
ENST00000653454.1:c.559+51G>C	ENSP00000499624.1:n.559+51G>C
ENST00000654597.1:c.559+51G>C	ENSP00000499406.1:n.559+51G>C
ENST00000655244.1:n.766+51G>C
ENST00000662933.1:c.559+51G>C	ENSP00000499577.1:n.559+51G>C
ENST00000664891.1:n.517+51G>C
ENST00000292327.4:c.559+51G>C	ENSP00000292327.4:n.559+51G>C
ENST00000395869.5:c.559+51G>C	ENSP00000379210.1:n.559+51G>C
NM_000258.2:c.559+51G>C , LRG_395t1:c.559+51G>C	NP_000249.1:n.559+51G>C
NM_000258.3:c.559+51G>C MANE Select	NP_000249.1:n.559+51G>C