Canonical Allele Identifier: CA1037732211
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs1682609753
gnomAD v3: 2-149569693-T-A
gnomAD v4: 2-149569693-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569693T>A , CM000664.2:g.149569693T>A GRCh38
NC_000002.11:g.150426207T>A , CM000664.1:g.150426207T>A GRCh37
NC_000002.10:g.150134453T>A NCBI36
NG_009189.1:g.23124A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.*281A>T MANE Select ENSP00000301920.5:n.*281A>T
ENST00000303319.9:c.*281A>T ENSP00000301920.5:n.*281A>T
ENST00000422782.2:c.*281A>T ENSP00000408331.2:n.*281A>T
ENST00000428879.5:c.*281A>T ENSP00000389060.1:n.*281A>T
NM_015702.2:c.*281A>T NP_056517.1:n.*281A>T
NM_015702.3:c.*281A>T MANE Select NP_056517.1:n.*281A>T
Search 100 bp 5'
Search 100 bp 3'