Canonical Allele Identifier: CA2661422080
Gene: MMADHC HGNC NCBI

Linked Data

gnomAD v4: 2-149569843-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569843T>G , CM000664.2:g.149569843T>G GRCh38
NC_000002.11:g.150426357T>G , CM000664.1:g.150426357T>G GRCh37
NC_000002.10:g.150134603T>G NCBI36
NG_009189.1:g.22974A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.*131A>C MANE Select ENSP00000301920.5:n.*131A>C
ENST00000303319.9:c.*131A>C ENSP00000301920.5:n.*131A>C
ENST00000422782.2:c.*131A>C ENSP00000408331.2:n.*131A>C
ENST00000428879.5:c.*131A>C ENSP00000389060.1:n.*131A>C
NM_015702.2:c.*131A>C NP_056517.1:n.*131A>C
NM_015702.3:c.*131A>C MANE Select NP_056517.1:n.*131A>C
Search 100 bp 5'
Search 100 bp 3'