Canonical Allele Identifier: CA758703020
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs1373602396
MyVariant Identifiers: chr2:g.150426270C>A (hg19) chr2:g.149569756C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569756C>A , CM000664.2:g.149569756C>A GRCh38
NC_000002.11:g.150426270C>A , CM000664.1:g.150426270C>A GRCh37
NC_000002.10:g.150134516C>A NCBI36
NG_009189.1:g.23061G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.*218G>T MANE Select ENSP00000301920.5:n.*218G>T
ENST00000303319.9:c.*218G>T ENSP00000301920.5:n.*218G>T
ENST00000422782.2:c.*218G>T ENSP00000408331.2:n.*218G>T
ENST00000428879.5:c.*218G>T ENSP00000389060.1:n.*218G>T
NM_015702.2:c.*218G>T NP_056517.1:n.*218G>T
NM_015702.3:c.*218G>T MANE Select NP_056517.1:n.*218G>T
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