Canonical Allele Identifier: CA348869051
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs1682615555
MyVariant Identifiers: chr2:g.150426575A>C (hg19) chr2:g.149570061A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570061A>C , CM000664.2:g.149570061A>C GRCh38
NC_000002.11:g.150426575A>C , CM000664.1:g.150426575A>C GRCh37
NC_000002.10:g.150134821A>C NCBI36
NG_009189.1:g.22756T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.804T>G MANE Select ENSP00000301920.5:p.Ser268Arg
ENST00000303319.9:c.804T>G ENSP00000301920.5:p.Ser268Arg
ENST00000422782.2:c.906T>G ENSP00000408331.2:p.Ser302Arg
ENST00000428879.5:c.804T>G ENSP00000389060.1:p.Ser268Arg
NM_015702.2:c.804T>G NP_056517.1:p.Ser268Arg
NM_015702.3:c.804T>G MANE Select NP_056517.1:p.Ser268Arg
Search 100 bp 5'
Search 100 bp 3'