Canonical Allele Identifier: CA1297264233
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs1682612866
gnomAD v3: 2-149569912-G-GTGTT
gnomAD v4: 2-149569912-G-GTGTT
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569914_149569917dup , CM000664.2:g.149569914_149569917dup GRCh38
NC_000002.11:g.150426428_150426431dup , CM000664.1:g.150426428_150426431dup GRCh37
NC_000002.10:g.150134674_150134677dup NCBI36
NG_009189.1:g.22901_22904dup

Transcript Alleles

HGVS Amino-acid change
ENST00000303319.10:c.*58_*61dup MANE Select ENSP00000301920.5:n.*58_*61dup
ENST00000303319.9:c.*58_*61dup ENSP00000301920.5:n.*58_*61dup
ENST00000422782.2:c.*58_*61dup ENSP00000408331.2:n.*58_*61dup
ENST00000428879.5:c.*58_*61dup ENSP00000389060.1:n.*58_*61dup
NM_015702.2:c.*58_*61dup NP_056517.1:n.*58_*61dup
NM_015702.3:c.*58_*61dup MANE Select NP_056517.1:n.*58_*61dup
Search 100 bp 5'
Search 100 bp 3'