Canonical Allele Identifier: CA16603841
Gene: MMADHC HGNC NCBI
MMADHC-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 381837
ClinVar RCV Id: RCV000434153
dbSNP Id: rs556561072
gnomAD v2: 2-150444160-G-A
gnomAD v3: 2-149587646-G-A
gnomAD v4: 2-149587646-G-A
MyVariant Identifiers: chr2:g.150444160G>A (hg19) chr2:g.149587646G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149587646G>A , CM000664.2:g.149587646G>A GRCh38
NC_000002.11:g.150444160G>A , CM000664.1:g.150444160G>A GRCh37
NC_000002.10:g.150152406G>A NCBI36
NG_009189.1:g.5171C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.-53+18C>T (MMADHC) MANE Select ENSP00000301920.5:n.-53+18C>T
ENST00000303319.9:c.-53+18C>T (MMADHC) ENSP00000301920.5:n.-53+18C>T
ENST00000422782.2:c.-53+18C>T (MMADHC) ENSP00000408331.2:n.-53+18C>T
ENST00000460311.1:n.63+18C>T (MMADHC)
NM_015702.2:c.-53+18C>T (MMADHC) NP_056517.1:n.-53+18C>T
NR_110240.1:n.289G>A (MMADHC-DT)
NM_015702.3:c.-53+18C>T (MMADHC) MANE Select NP_056517.1:n.-53+18C>T
Search 100 bp 5'
Search 100 bp 3'