Canonical Allele Identifier: CA758703502
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs1297663536
MyVariant Identifiers: chr2:g.150426711T>C (hg19) chr2:g.149570197T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570197T>C , CM000664.2:g.149570197T>C GRCh38
NC_000002.11:g.150426711T>C , CM000664.1:g.150426711T>C GRCh37
NC_000002.10:g.150134957T>C NCBI36
NG_009189.1:g.22620A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.697-29A>G MANE Select ENSP00000301920.5:n.697-29A>G
ENST00000303319.9:c.697-29A>G ENSP00000301920.5:n.697-29A>G
ENST00000422782.2:c.799-29A>G ENSP00000408331.2:n.799-29A>G
ENST00000428879.5:c.697-29A>G ENSP00000389060.1:n.697-29A>G
NM_015702.2:c.697-29A>G NP_056517.1:n.697-29A>G
NM_015702.3:c.697-29A>G MANE Select NP_056517.1:n.697-29A>G
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