Canonical Allele Identifier: CA647537449
Gene: MMADHC HGNC NCBI

Linked Data

gnomAD v4: 2-149569639-G-T
COSMIC: COSN26550714
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569639G>T , CM000664.2:g.149569639G>T GRCh38
NC_000002.11:g.150426153G>T , CM000664.1:g.150426153G>T GRCh37
NC_000002.10:g.150134399G>T NCBI36
NG_009189.1:g.23178C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.*335C>A MANE Select ENSP00000301920.5:n.*335C>A
ENST00000303319.9:c.*335C>A ENSP00000301920.5:n.*335C>A
NM_015702.2:c.*335C>A NP_056517.1:n.*335C>A
NM_015702.3:c.*335C>A MANE Select NP_056517.1:n.*335C>A
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