Canonical Allele Identifier: CA2661422015

Gene: MMADHC

Linked Data

• gnomAD v4: 2-149569783-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.149569783G>A , CM000664.2:g.149569783G>A	GRCh38
NC_000002.11:g.150426297G>A , CM000664.1:g.150426297G>A	GRCh37
NC_000002.10:g.150134543G>A	NCBI36
NG_009189.1:g.23034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303319.10:c.*191C>T MANE Select	ENSP00000301920.5:n.*191C>T
ENST00000303319.9:c.*191C>T	ENSP00000301920.5:n.*191C>T
ENST00000422782.2:c.*191C>T	ENSP00000408331.2:n.*191C>T
ENST00000428879.5:c.*191C>T	ENSP00000389060.1:n.*191C>T
NM_015702.2:c.*191C>T	NP_056517.1:n.*191C>T
NM_015702.3:c.*191C>T MANE Select	NP_056517.1:n.*191C>T