Canonical Allele Identifier: CA827618
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 796470
ClinVar RCV Id: RCV000979859 RCV001272217
dbSNP Id: rs749003802
ExAC: 1:45966079 C / A
gnomAD v2: 1-45966079-C-A
gnomAD v4: 1-45500407-C-A
MyVariant Identifiers: chr1:g.45966079C>A (hg19) chr1:g.45500407C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500407C>A , CM000663.2:g.45500407C>A GRCh38
NC_000001.10:g.45966079C>A , CM000663.1:g.45966079C>A GRCh37
NC_000001.9:g.45738666C>A NCBI36
NG_013378.1:g.5224C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.75C>A MANE Select ENSP00000383840.4:p.Pro25=
ENST00000401061.8:c.75C>A ENSP00000383840.4:p.Pro25=
ENST00000616135.1:c.-97C>A ENSP00000478859.1:n.-97C>A
NM_015506.2:c.75C>A NP_056321.2:p.Pro25=
XM_005270724.3:c.75C>A XP_005270781.1:p.Pro25=
XM_011541204.1:c.-148C>A XP_011539506.1:n.-148C>A
NM_001330540.1:c.-148C>A NP_001317469.1:n.-148C>A
XM_005270724.5:c.75C>A XP_005270781.1:p.Pro25=
NM_015506.3:c.75C>A MANE Select NP_056321.2:p.Pro25=
NM_001330540.2:c.-148C>A NP_001317469.1:n.-148C>A
Search 100 bp 5'
Search 100 bp 3'