Canonical Allele Identifier: CA58332353
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs1035340558
gnomAD v2: 2-150426420-C-T
gnomAD v3: 2-149569906-C-T
gnomAD v4: 2-149569906-C-T
MyVariant Identifiers: chr2:g.150426420C>T (hg19) chr2:g.149569906C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569906C>T , CM000664.2:g.149569906C>T GRCh38
NC_000002.11:g.150426420C>T , CM000664.1:g.150426420C>T GRCh37
NC_000002.10:g.150134666C>T NCBI36
NG_009189.1:g.22911G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000303319.10:c.*68G>A MANE Select ENSP00000301920.5:n.*68G>A
ENST00000303319.9:c.*68G>A ENSP00000301920.5:n.*68G>A
ENST00000422782.2:c.*68G>A ENSP00000408331.2:n.*68G>A
ENST00000428879.5:c.*68G>A ENSP00000389060.1:n.*68G>A
NM_015702.2:c.*68G>A NP_056517.1:n.*68G>A
NM_015702.3:c.*68G>A MANE Select NP_056517.1:n.*68G>A
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