Canonical Allele Identifier: CA2661421993
Gene: MMADHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569738A>G , CM000664.2:g.149569738A>G GRCh38
NC_000002.11:g.150426252A>G , CM000664.1:g.150426252A>G GRCh37
NC_000002.10:g.150134498A>G NCBI36
NG_009189.1:g.23079T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.*236T>C MANE Select ENSP00000301920.5:n.*236T>C
ENST00000303319.9:c.*236T>C ENSP00000301920.5:n.*236T>C
ENST00000422782.2:c.*236T>C ENSP00000408331.2:n.*236T>C
ENST00000428879.5:c.*236T>C ENSP00000389060.1:n.*236T>C
NM_015702.2:c.*236T>C NP_056517.1:n.*236T>C
NM_015702.3:c.*236T>C MANE Select NP_056517.1:n.*236T>C