Canonical Allele Identifier: CA1902251

Gene: MMADHC

Linked Data

• dbSNP Id: rs765537256
• ExAC: 2:150426537 G / C
• gnomAD v2: 2-150426537-G-C
• gnomAD v4: 2-149570023-G-C
• MyVariant Identifiers: chr2:g.150426537G>C (hg19) ; chr2:g.149570023G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149570023G>C , CM000664.2:g.149570023G>C	GRCh38
NC_000002.11:g.150426537G>C , CM000664.1:g.150426537G>C	GRCh37
NC_000002.10:g.150134783G>C	NCBI36
NG_009189.1:g.22794C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000303319.10:c.842C>G MANE Select	ENSP00000301920.5:p.Thr281Ser
ENST00000303319.9:c.842C>G	ENSP00000301920.5:p.Thr281Ser
ENST00000422782.2:c.944C>G	ENSP00000408331.2:p.Thr315Ser
ENST00000428879.5:c.842C>G	ENSP00000389060.1:p.Thr281Ser
NM_015702.2:c.842C>G	NP_056517.1:p.Thr281Ser
NM_015702.3:c.842C>G MANE Select	NP_056517.1:p.Thr281Ser