Canonical Allele Identifier: CA536935048

Gene: MMADHC

Linked Data

• dbSNP Id: rs1489881191
• gnomAD v2: 2-150426318-T-G
• gnomAD v3: 2-149569804-T-G
• gnomAD v4: 2-149569804-T-G
• MyVariant Identifiers: chr2:g.150426318T>G (hg19) ; chr2:g.149569804T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149569804T>G , CM000664.2:g.149569804T>G	GRCh38
NC_000002.11:g.150426318T>G , CM000664.1:g.150426318T>G	GRCh37
NC_000002.10:g.150134564T>G	NCBI36
NG_009189.1:g.23013A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303319.10:c.*170A>C MANE Select	ENSP00000301920.5:n.*170A>C
ENST00000303319.9:c.*170A>C	ENSP00000301920.5:n.*170A>C
ENST00000422782.2:c.*170A>C	ENSP00000408331.2:n.*170A>C
ENST00000428879.5:c.*170A>C	ENSP00000389060.1:n.*170A>C
NM_015702.2:c.*170A>C	NP_056517.1:n.*170A>C
NM_015702.3:c.*170A>C MANE Select	NP_056517.1:n.*170A>C