Canonical Allele Identifier: CA348868770
Gene: MMADHC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.150426519C>G (hg19) chr2:g.149570005C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570005C>G , CM000664.2:g.149570005C>G GRCh38
NC_000002.11:g.150426519C>G , CM000664.1:g.150426519C>G GRCh37
NC_000002.10:g.150134765C>G NCBI36
NG_009189.1:g.22812G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.860G>C MANE Select ENSP00000301920.5:p.Ser287Thr
ENST00000303319.9:c.860G>C ENSP00000301920.5:p.Ser287Thr
ENST00000422782.2:c.962G>C ENSP00000408331.2:p.Ser321Thr
ENST00000428879.5:c.860G>C ENSP00000389060.1:p.Ser287Thr
NM_015702.2:c.860G>C NP_056517.1:p.Ser287Thr
NM_015702.3:c.860G>C MANE Select NP_056517.1:p.Ser287Thr
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