Canonical Allele Identifier: CA348869233
Gene: MMADHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570098A>C , CM000664.2:g.149570098A>C GRCh38
NC_000002.11:g.150426612A>C , CM000664.1:g.150426612A>C GRCh37
NC_000002.10:g.150134858A>C NCBI36
NG_009189.1:g.22719T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000303319.10:c.767T>G MANE Select ENSP00000301920.5:p.Val256Gly
ENST00000303319.9:c.767T>G ENSP00000301920.5:p.Val256Gly
ENST00000422782.2:c.869T>G ENSP00000408331.2:p.Val290Gly
ENST00000428879.5:c.767T>G ENSP00000389060.1:p.Val256Gly
NM_015702.2:c.767T>G NP_056517.1:p.Val256Gly
NM_015702.3:c.767T>G MANE Select NP_056517.1:p.Val256Gly