Canonical Allele Identifier: CA10611311
Gene: MMADHC HGNC NCBI

Linked Data

ClinVar Variation Id: 331376
ClinVar RCV Id: RCV000263308 RCV000318431
dbSNP Id: rs886054920
gnomAD v2: 2-150426620-T-A
MyVariant Identifiers: chr2:g.150426620T>A (hg19) chr2:g.149570106T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570106T>A , CM000664.2:g.149570106T>A GRCh38
NC_000002.11:g.150426620T>A , CM000664.1:g.150426620T>A GRCh37
NC_000002.10:g.150134866T>A NCBI36
NG_009189.1:g.22711A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000303319.10:c.759A>T MANE Select ENSP00000301920.5:p.Gly253=
ENST00000303319.9:c.759A>T ENSP00000301920.5:p.Gly253=
ENST00000422782.2:c.861A>T ENSP00000408331.2:p.Gly287=
ENST00000428879.5:c.759A>T ENSP00000389060.1:p.Gly253=
NM_015702.2:c.759A>T NP_056517.1:p.Gly253=
NM_015702.3:c.759A>T MANE Select NP_056517.1:p.Gly253=
Search 100 bp 5'
Search 100 bp 3'