Canonical Allele Identifier: CA348868711
Gene: MMADHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569989T>G , CM000664.2:g.149569989T>G GRCh38
NC_000002.11:g.150426503T>G , CM000664.1:g.150426503T>G GRCh37
NC_000002.10:g.150134749T>G NCBI36
NG_009189.1:g.22828A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.876A>C MANE Select ENSP00000301920.5:p.Lys292Asn
ENST00000303319.9:c.876A>C ENSP00000301920.5:p.Lys292Asn
ENST00000422782.2:c.978A>C ENSP00000408331.2:p.Lys326Asn
ENST00000428879.5:c.876A>C ENSP00000389060.1:p.Lys292Asn
NM_015702.2:c.876A>C NP_056517.1:p.Lys292Asn
NM_015702.3:c.876A>C MANE Select NP_056517.1:p.Lys292Asn