Canonical Allele Identifier: CA042550
Gene: MYL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 345569
ClinVar RCV Id: RCV000352971 RCV000616135
dbSNP Id: rs200422816
ExAC: 3:46899716 C / G
gnomAD v2: 3-46899716-C-G
gnomAD v3: 3-46858226-C-G
gnomAD v4: 3-46858226-C-G
MyVariant Identifiers: chr3:g.46899716C>G (hg19) chr3:g.46858226C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46858226C>G , CM000665.2:g.46858226C>G GRCh38
NC_000003.11:g.46899716C>G , CM000665.1:g.46899716C>G GRCh37
NC_000003.10:g.46874720C>G NCBI36
NG_007555.2:g.28944G>C , LRG_395:g.28944G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000431168.2:c.*13+5G>C ENSP00000393455.2:n.*13+5G>C
ENST00000292327.6:c.*13+5G>C MANE Select ENSP00000292327.4:n.*13+5G>C
ENST00000653454.1:c.*13+5G>C ENSP00000499624.1:n.*13+5G>C
ENST00000654597.1:c.*13+5G>C ENSP00000499406.1:n.*13+5G>C
ENST00000655244.1:n.808+5G>C
ENST00000662933.1:c.*13+5G>C ENSP00000499577.1:n.*13+5G>C
ENST00000664891.1:n.559+5G>C
ENST00000292327.4:c.*13+5G>C ENSP00000292327.4:n.*13+5G>C
ENST00000395869.5:c.*18G>C ENSP00000379210.1:n.*18G>C
NM_000258.2:c.*13+5G>C , LRG_395t1:c.*13+5G>C NP_000249.1:n.*13+5G>C
NM_000258.3:c.*13+5G>C MANE Select NP_000249.1:n.*13+5G>C
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