Canonical Allele Identifier: CA251599
Gene: MMADHC HGNC NCBI

Linked Data

ClinVar Variation Id: 767
dbSNP Id: rs118204048

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570117G>A , CM000664.2:g.149570117G>A GRCh38
NC_000002.11:g.150426631G>A , CM000664.1:g.150426631G>A GRCh37
NC_000002.10:g.150134877G>A NCBI36
NG_009189.1:g.22700C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000303319.10:c.748C>T MANE Select ENSP00000301920.5:p.Arg250Ter
ENST00000303319.9:c.748C>T ENSP00000301920.5:p.Arg250Ter
ENST00000422782.2:c.850C>T ENSP00000408331.2:p.Arg284Ter
ENST00000428879.5:c.748C>T ENSP00000389060.1:p.Arg250Ter
NM_015702.2:c.748C>T NP_056517.1:p.Arg250Ter
NM_015702.3:c.748C>T MANE Select NP_056517.1:p.Arg250Ter