Canonical Allele Identifier: CA1297264424

Gene: MMADHC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149570298A= , CM000664.2:g.149570298A=	GRCh38
NC_000002.11:g.150426812A= , CM000664.1:g.150426812A=	GRCh37
NC_000002.10:g.150135058A=	NCBI36
NG_009189.1:g.22519T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303319.10:c.697-130T= MANE Select	ENSP00000301920.5:n.697-130T=
ENST00000303319.9:c.697-130T=	ENSP00000301920.5:n.697-130T=
ENST00000422782.2:c.799-130T=	ENSP00000408331.2:n.799-130T=
ENST00000428879.5:c.697-130T=	ENSP00000389060.1:n.697-130T=
NM_015702.2:c.697-130T=	NP_056517.1:n.697-130T=
NM_015702.3:c.697-130T= MANE Select	NP_056517.1:n.697-130T=