Canonical Allele Identifier: CA1902269
Gene: MMADHC HGNC NCBI

Linked Data

dbSNP Id: rs763168546
ExAC: 2:150426617 G / T
gnomAD v2: 2-150426617-G-T
gnomAD v4: 2-149570103-G-T
MyVariant Identifiers: chr2:g.150426617G>T (hg19) chr2:g.149570103G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570103G>T , CM000664.2:g.149570103G>T GRCh38
NC_000002.11:g.150426617G>T , CM000664.1:g.150426617G>T GRCh37
NC_000002.10:g.150134863G>T NCBI36
NG_009189.1:g.22714C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000303319.10:c.762C>A MANE Select ENSP00000301920.5:p.Phe254Leu
ENST00000303319.9:c.762C>A ENSP00000301920.5:p.Phe254Leu
ENST00000422782.2:c.864C>A ENSP00000408331.2:p.Phe288Leu
ENST00000428879.5:c.762C>A ENSP00000389060.1:p.Phe254Leu
NM_015702.2:c.762C>A NP_056517.1:p.Phe254Leu
NM_015702.3:c.762C>A MANE Select NP_056517.1:p.Phe254Leu
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