Canonical Allele Identifier: CA58332368

Gene: MMADHC

Linked Data

• dbSNP Id: rs937853804
• MyVariant Identifiers: chr2:g.150426760T>A (hg19) ; chr2:g.149570246T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149570246T>A , CM000664.2:g.149570246T>A	GRCh38
NC_000002.11:g.150426760T>A , CM000664.1:g.150426760T>A	GRCh37
NC_000002.10:g.150135006T>A	NCBI36
NG_009189.1:g.22571A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303319.10:c.697-78A>T MANE Select	ENSP00000301920.5:n.697-78A>T
ENST00000303319.9:c.697-78A>T	ENSP00000301920.5:n.697-78A>T
ENST00000422782.2:c.799-78A>T	ENSP00000408331.2:n.799-78A>T
ENST00000428879.5:c.697-78A>T	ENSP00000389060.1:n.697-78A>T
NM_015702.2:c.697-78A>T	NP_056517.1:n.697-78A>T
NM_015702.3:c.697-78A>T MANE Select	NP_056517.1:n.697-78A>T