Canonical Allele Identifier: CA348869478

Gene: MMADHC

Linked Data

• MyVariant Identifiers: chr2:g.150426683C>T (hg19) ; chr2:g.149570169C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149570169C>T , CM000664.2:g.149570169C>T	GRCh38
NC_000002.11:g.150426683C>T , CM000664.1:g.150426683C>T	GRCh37
NC_000002.10:g.150134929C>T	NCBI36
NG_009189.1:g.22648G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303319.10:c.697-1G>A MANE Select	ENSP00000301920.5:n.697-1G>A
ENST00000303319.9:c.697-1G>A	ENSP00000301920.5:n.697-1G>A
ENST00000422782.2:c.799-1G>A	ENSP00000408331.2:n.799-1G>A
ENST00000428879.5:c.697-1G>A	ENSP00000389060.1:n.697-1G>A
NM_015702.2:c.697-1G>A	NP_056517.1:n.697-1G>A
NM_015702.3:c.697-1G>A MANE Select	NP_056517.1:n.697-1G>A