Canonical Allele Identifier: CA58332351
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs555220374
gnomAD v3: 2-149569887-A-G
gnomAD v4: 2-149569887-A-G
MyVariant Identifiers: chr2:g.150426401A>G (hg19) chr2:g.149569887A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569887A>G , CM000664.2:g.149569887A>G GRCh38
NC_000002.11:g.150426401A>G , CM000664.1:g.150426401A>G GRCh37
NC_000002.10:g.150134647A>G NCBI36
NG_009189.1:g.22930T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.*87T>C MANE Select ENSP00000301920.5:n.*87T>C
ENST00000303319.9:c.*87T>C ENSP00000301920.5:n.*87T>C
ENST00000422782.2:c.*87T>C ENSP00000408331.2:n.*87T>C
ENST00000428879.5:c.*87T>C ENSP00000389060.1:n.*87T>C
NM_015702.2:c.*87T>C NP_056517.1:n.*87T>C
NM_015702.3:c.*87T>C MANE Select NP_056517.1:n.*87T>C
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