Canonical Allele Identifier: CA10610883
Gene: MMADHC HGNC NCBI

Linked Data

ClinVar Variation Id: 331387
ClinVar RCV Id: RCV000295566 RCV000389766
dbSNP Id: rs886054922
gnomAD v4: 2-149587152-G-C
MyVariant Identifiers: chr2:g.150443666G>C (hg19) chr2:g.149587152G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149587152G>C , CM000664.2:g.149587152G>C GRCh38
NC_000002.11:g.150443666G>C , CM000664.1:g.150443666G>C GRCh37
NC_000002.10:g.150151912G>C NCBI36
NG_009189.1:g.5665C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.-52-3C>G MANE Select ENSP00000301920.5:n.-52-3C>G
ENST00000303319.9:c.-52-3C>G ENSP00000301920.5:n.-52-3C>G
ENST00000422782.2:c.-52-3C>G ENSP00000408331.2:n.-52-3C>G
ENST00000428879.5:c.-55C>G ENSP00000389060.1:n.-55C>G
ENST00000460311.1:n.64-3C>G
NM_015702.2:c.-52-3C>G NP_056517.1:n.-52-3C>G
NM_015702.3:c.-52-3C>G MANE Select NP_056517.1:n.-52-3C>G
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