Canonical Allele Identifier: CA348869079
Gene: MMADHC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.150426580G>T (hg19) chr2:g.149570066G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570066G>T , CM000664.2:g.149570066G>T GRCh38
NC_000002.11:g.150426580G>T , CM000664.1:g.150426580G>T GRCh37
NC_000002.10:g.150134826G>T NCBI36
NG_009189.1:g.22751C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.799C>A MANE Select ENSP00000301920.5:p.His267Asn
ENST00000303319.9:c.799C>A ENSP00000301920.5:p.His267Asn
ENST00000422782.2:c.901C>A ENSP00000408331.2:p.His301Asn
ENST00000428879.5:c.799C>A ENSP00000389060.1:p.His267Asn
NM_015702.2:c.799C>A NP_056517.1:p.His267Asn
NM_015702.3:c.799C>A MANE Select NP_056517.1:p.His267Asn
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