Canonical Allele Identifier: CA1297264150
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs1682609605
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569678A>C , CM000664.2:g.149569678A>C GRCh38
NC_000002.11:g.150426192A>C , CM000664.1:g.150426192A>C GRCh37
NC_000002.10:g.150134438A>C NCBI36
NG_009189.1:g.23139T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.*296T>G MANE Select ENSP00000301920.5:n.*296T>G
ENST00000303319.9:c.*296T>G ENSP00000301920.5:n.*296T>G
ENST00000422782.2:c.*296T>G ENSP00000408331.2:n.*296T>G
ENST00000428879.5:c.*296T>G ENSP00000389060.1:n.*296T>G
NM_015702.2:c.*296T>G NP_056517.1:n.*296T>G
NM_015702.3:c.*296T>G MANE Select NP_056517.1:n.*296T>G
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