Canonical Allele Identifier: CA429405960
Gene: MMADHC HGNC NCBI

Linked Data

ClinVar Variation Id: 2886919
ClinVar RCV Id: RCV003600868
dbSNP Id: rs1682617731
gnomAD v3: 2-149570154-A-G
gnomAD v4: 2-149570154-A-G
MyVariant Identifiers: chr2:g.150426668A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570154A>G , CM000664.2:g.149570154A>G GRCh38
NC_000002.11:g.150426668A>G , CM000664.1:g.150426668A>G GRCh37
NC_000002.10:g.150134914A>G NCBI36
NG_009189.1:g.22663T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.711T>C MANE Select ENSP00000301920.5:p.Tyr237=
ENST00000303319.9:c.711T>C ENSP00000301920.5:p.Tyr237=
ENST00000422782.2:c.813T>C ENSP00000408331.2:p.Tyr271=
ENST00000428879.5:c.711T>C ENSP00000389060.1:p.Tyr237=
NM_015702.2:c.711T>C NP_056517.1:p.Tyr237=
NM_015702.3:c.711T>C MANE Select NP_056517.1:p.Tyr237=
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Search 100 bp 3'