Canonical Allele Identifier: CA114487
Gene: MMADHC HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.149575775G>T
GRCh37 chr2:g.150432289G>T
Revel Score:
ENST00000303319 (MANE Select) 0.696
ENST00000428879 0.696
ENST00000422782 0.696
gnomAD v4:
chr2-149575775-G-T
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000000798
ClinVar Variation:
762
dbSNP:
118204045
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149575775G>T , CM000664.2:g.149575775G>T GRCh38
NC_000002.11:g.150432289G>T , CM000664.1:g.150432289G>T GRCh37
NC_000002.10:g.150140535G>T NCBI36
NG_009189.1:g.17042C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.545C>A MANE Select ENSP00000301920.5:p.Thr182Asn
ENST00000303319.9:c.545C>A ENSP00000301920.5:p.Thr182Asn
ENST00000422782.2:c.545C>A ENSP00000408331.2:p.Thr182Asn
ENST00000428879.5:c.545C>A ENSP00000389060.1:p.Thr182Asn
NM_015702.2:c.545C>A NP_056517.1:p.Thr182Asn
NM_015702.3:c.545C>A MANE Select NP_056517.1:p.Thr182Asn
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