Canonical Allele Identifier: CA348869278
Gene: MMADHC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.150426621C>T (hg19) chr2:g.149570107C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570107C>T , CM000664.2:g.149570107C>T GRCh38
NC_000002.11:g.150426621C>T , CM000664.1:g.150426621C>T GRCh37
NC_000002.10:g.150134867C>T NCBI36
NG_009189.1:g.22710G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000303319.10:c.758G>A MANE Select ENSP00000301920.5:p.Gly253Glu
ENST00000303319.9:c.758G>A ENSP00000301920.5:p.Gly253Glu
ENST00000422782.2:c.860G>A ENSP00000408331.2:p.Gly287Glu
ENST00000428879.5:c.758G>A ENSP00000389060.1:p.Gly253Glu
NM_015702.2:c.758G>A NP_056517.1:p.Gly253Glu
NM_015702.3:c.758G>A MANE Select NP_056517.1:p.Gly253Glu
Search 100 bp 5'
Search 100 bp 3'