Canonical Allele Identifier: CA429405891
Gene: MMADHC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.150426557T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570043T>G , CM000664.2:g.149570043T>G GRCh38
NC_000002.11:g.150426557T>G , CM000664.1:g.150426557T>G GRCh37
NC_000002.10:g.150134803T>G NCBI36
NG_009189.1:g.22774A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.822A>C MANE Select ENSP00000301920.5:p.Val274=
ENST00000303319.9:c.822A>C ENSP00000301920.5:p.Val274=
ENST00000422782.2:c.924A>C ENSP00000408331.2:p.Val308=
ENST00000428879.5:c.822A>C ENSP00000389060.1:p.Val274=
NM_015702.2:c.822A>C NP_056517.1:p.Val274=
NM_015702.3:c.822A>C MANE Select NP_056517.1:p.Val274=