Canonical Allele Identifier: CA1902283
Gene: MMADHC HGNC NCBI

Linked Data

ClinVar Variation Id: 892600
ClinVar RCV Id: RCV001128812 RCV001128813
dbSNP Id: rs770272562
ExAC: 2:150426685 G / A
gnomAD v2: 2-150426685-G-A
gnomAD v3: 2-149570171-G-A
gnomAD v4: 2-149570171-G-A
MyVariant Identifiers: chr2:g.150426685G>A (hg19) chr2:g.149570171G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570171G>A , CM000664.2:g.149570171G>A GRCh38
NC_000002.11:g.150426685G>A , CM000664.1:g.150426685G>A GRCh37
NC_000002.10:g.150134931G>A NCBI36
NG_009189.1:g.22646C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.697-3C>T MANE Select ENSP00000301920.5:n.697-3C>T
ENST00000303319.9:c.697-3C>T ENSP00000301920.5:n.697-3C>T
ENST00000422782.2:c.799-3C>T ENSP00000408331.2:n.799-3C>T
ENST00000428879.5:c.697-3C>T ENSP00000389060.1:n.697-3C>T
NM_015702.2:c.697-3C>T NP_056517.1:n.697-3C>T
NM_015702.3:c.697-3C>T MANE Select NP_056517.1:n.697-3C>T
Search 100 bp 5'
Search 100 bp 3'