Canonical Allele Identifier: CA1902257
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs528082092

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570053C>T , CM000664.2:g.149570053C>T GRCh38
NC_000002.11:g.150426567C>T , CM000664.1:g.150426567C>T GRCh37
NC_000002.10:g.150134813C>T NCBI36
NG_009189.1:g.22764G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.812G>A MANE Select ENSP00000301920.5:p.Gly271Asp
ENST00000303319.9:c.812G>A ENSP00000301920.5:p.Gly271Asp
ENST00000422782.2:c.914G>A ENSP00000408331.2:p.Gly305Asp
ENST00000428879.5:c.812G>A ENSP00000389060.1:p.Gly271Asp
NM_015702.2:c.812G>A NP_056517.1:p.Gly271Asp
NM_015702.3:c.812G>A MANE Select NP_056517.1:p.Gly271Asp