Canonical Allele Identifier: CA348869261
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs1682616517
gnomAD v4: 2-149570104-A-C
MyVariant Identifiers: chr2:g.150426618A>C (hg19) chr2:g.149570104A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570104A>C , CM000664.2:g.149570104A>C GRCh38
NC_000002.11:g.150426618A>C , CM000664.1:g.150426618A>C GRCh37
NC_000002.10:g.150134864A>C NCBI36
NG_009189.1:g.22713T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000303319.10:c.761T>G MANE Select ENSP00000301920.5:p.Phe254Cys
ENST00000303319.9:c.761T>G ENSP00000301920.5:p.Phe254Cys
ENST00000422782.2:c.863T>G ENSP00000408331.2:p.Phe288Cys
ENST00000428879.5:c.761T>G ENSP00000389060.1:p.Phe254Cys
NM_015702.2:c.761T>G NP_056517.1:p.Phe254Cys
NM_015702.3:c.761T>G MANE Select NP_056517.1:p.Phe254Cys
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