Canonical Allele Identifier: CA1902282
Gene: MMADHC HGNC NCBI

Linked Data

ClinVar Variation Id: 708861
ClinVar RCV Id: RCV000880192
dbSNP Id: rs143753228
ExAC: 2:150426672 G / A
gnomAD v2: 2-150426672-G-A
gnomAD v3: 2-149570158-G-A
gnomAD v4: 2-149570158-G-A
MyVariant Identifiers: chr2:g.150426672G>A (hg19) chr2:g.149570158G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570158G>A , CM000664.2:g.149570158G>A GRCh38
NC_000002.11:g.150426672G>A , CM000664.1:g.150426672G>A GRCh37
NC_000002.10:g.150134918G>A NCBI36
NG_009189.1:g.22659C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.707C>T MANE Select ENSP00000301920.5:p.Pro236Leu
ENST00000303319.9:c.707C>T ENSP00000301920.5:p.Pro236Leu
ENST00000422782.2:c.809C>T ENSP00000408331.2:p.Pro270Leu
ENST00000428879.5:c.707C>T ENSP00000389060.1:p.Pro236Leu
NM_015702.2:c.707C>T NP_056517.1:p.Pro236Leu
NM_015702.3:c.707C>T MANE Select NP_056517.1:p.Pro236Leu
Search 100 bp 5'
Search 100 bp 3'