Canonical Allele Identifier: CA522810899
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 556708
ClinVar RCV Id: RCV000672749 RCV001273233
dbSNP Id: rs1463495909
gnomAD v2: 1-45974604-G-GT
gnomAD v3: 1-45508932-G-GT
gnomAD v4: 1-45508932-G-GT
MyVariant Identifiers: chr1:g.45974604_45974605insT (hg19) chr1:g.45508933dup (hg38) chr1:g.45508932_45508933insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508933dup , CM000663.2:g.45508933dup GRCh38
NC_000001.10:g.45974605dup , CM000663.1:g.45974605dup GRCh37
NC_000001.9:g.45747192dup NCBI36
NG_013378.1:g.13750dup

Transcript Alleles

HGVS Amino-acid change
ENST00000401061.9:c.567dup MANE Select ENSP00000383840.4:p.Ile190TyrfsTer13
ENST00000401061.8:c.567dup ENSP00000383840.4:p.Ile190TyrfsTer13
ENST00000616135.1:c.396dup ENSP00000478859.1:p.Ile133TyrfsTer13
NM_015506.2:c.567dup NP_056321.2:p.Ile190TyrfsTer13
XM_005270724.3:c.372dup XP_005270781.1:p.Ile125TyrfsTer13
XM_011541204.1:c.396dup XP_011539506.1:p.Ile133TyrfsTer13
NM_001330540.1:c.396dup NP_001317469.1:p.Ile133TyrfsTer13
XM_005270724.5:c.372dup XP_005270781.1:p.Ile125TyrfsTer13
NM_015506.3:c.567dup MANE Select NP_056321.2:p.Ile190TyrfsTer13
NM_001330540.2:c.396dup NP_001317469.1:p.Ile133TyrfsTer13
Search 100 bp 5'
Search 100 bp 3'