Canonical Allele Identifier: CA210989
Gene: MAG HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.35309930T>G
GRCh37 chr19:g.35800833T>G
Revel Score:
ENST00000262624 0.781
ENST00000361922 0.781
ENST00000392213 (MANE Select) 0.781
ENST00000537831 0.781
ClinVar RCV:
RCV000106310
ClinVar Variation:
120188
dbSNP:
587777229
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35309930T>G , CM000681.2:g.35309930T>G GRCh38
NC_000019.9:g.35800833T>G , CM000681.1:g.35800833T>G GRCh37
NC_000019.8:g.40492673T>G NCBI36
NG_034078.1:g.22845T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392213.8:c.1288T>G MANE Select ENSP00000376048.2:p.Cys430Gly
ENST00000361922.8:c.1288T>G ENSP00000355234.4:p.Cys430Gly
ENST00000392213.7:c.1288T>G ENSP00000376048.2:p.Cys430Gly
ENST00000537831.2:c.1213T>G ENSP00000440695.1:p.Cys405Gly
ENST00000593348.1:n.125T>G
NM_001199216.1:c.1213T>G NP_001186145.1:p.Cys405Gly
NM_002361.3:c.1288T>G NP_002352.1:p.Cys430Gly
NM_080600.2:c.1288T>G NP_542167.1:p.Cys430Gly
NM_002361.4:c.1288T>G MANE Select NP_002352.1:p.Cys430Gly
NM_001199216.2:c.1213T>G NP_001186145.1:p.Cys405Gly
NM_080600.3:c.1288T>G NP_542167.1:p.Cys430Gly
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