Canonical Allele Identifier: CA352498250
Gene: MYL3 HGNC NCBI

Linked Data

dbSNP Id: rs1204495577
gnomAD v2: 3-46902241-C-G
gnomAD v3: 3-46860751-C-G
gnomAD v4: 3-46860751-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46860751C>G , CM000665.2:g.46860751C>G GRCh38
NC_000003.11:g.46902241C>G , CM000665.1:g.46902241C>G GRCh37
NC_000003.10:g.46877245C>G NCBI36
NG_007555.2:g.26419G>C , LRG_395:g.26419G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000431168.2:c.232G>C ENSP00000393455.2:p.Asp78His
ENST00000292327.6:c.232G>C MANE Select ENSP00000292327.4:p.Asp78His
ENST00000653454.1:c.232G>C ENSP00000499624.1:p.Asp78His
ENST00000654597.1:c.232G>C ENSP00000499406.1:p.Asp78His
ENST00000655244.1:n.454G>C
ENST00000662933.1:c.232G>C ENSP00000499577.1:p.Asp78His
ENST00000664891.1:n.190G>C
ENST00000292327.4:c.232G>C ENSP00000292327.4:p.Asp78His
ENST00000395869.5:c.232G>C ENSP00000379210.1:p.Asp78His
NM_000258.2:c.232G>C , LRG_395t1:c.232G>C NP_000249.1:p.Asp78His
NM_000258.3:c.232G>C MANE Select NP_000249.1:p.Asp78His