Canonical Allele Identifier: CA348868765
Gene: MMADHC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.150426518G>C (hg19) chr2:g.149570004G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570004G>C , CM000664.2:g.149570004G>C GRCh38
NC_000002.11:g.150426518G>C , CM000664.1:g.150426518G>C GRCh37
NC_000002.10:g.150134764G>C NCBI36
NG_009189.1:g.22813C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000303319.10:c.861C>G MANE Select ENSP00000301920.5:p.Ser287Arg
ENST00000303319.9:c.861C>G ENSP00000301920.5:p.Ser287Arg
ENST00000422782.2:c.963C>G ENSP00000408331.2:p.Ser321Arg
ENST00000428879.5:c.861C>G ENSP00000389060.1:p.Ser287Arg
NM_015702.2:c.861C>G NP_056517.1:p.Ser287Arg
NM_015702.3:c.861C>G MANE Select NP_056517.1:p.Ser287Arg
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Search 100 bp 3'