Canonical Allele Identifier: CA417705477
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 799718
ClinVar RCV Id: RCV000983335 RCV001277241
dbSNP Id: rs751229877
gnomAD v3: 1-45508217-C-T
gnomAD v4: 1-45508217-C-T
MyVariant Identifiers: chr1:g.45973889C>T (hg19) chr1:g.45508217C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508217C>T , CM000663.2:g.45508217C>T GRCh38
NC_000001.10:g.45973889C>T , CM000663.1:g.45973889C>T GRCh37
NC_000001.9:g.45746476C>T NCBI36
NG_013378.1:g.13034C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.282C>T MANE Select ENSP00000383840.4:p.Leu94=
ENST00000401061.8:c.282C>T ENSP00000383840.4:p.Leu94=
ENST00000616135.1:c.111C>T ENSP00000478859.1:p.Leu37=
NM_015506.2:c.282C>T NP_056321.2:p.Leu94=
XM_005270724.3:c.87C>T XP_005270781.1:p.Leu29=
XM_011541204.1:c.111C>T XP_011539506.1:p.Leu37=
NM_001330540.1:c.111C>T NP_001317469.1:p.Leu37=
XM_005270724.5:c.87C>T XP_005270781.1:p.Leu29=
NM_015506.3:c.282C>T MANE Select NP_056321.2:p.Leu94=
NM_001330540.2:c.111C>T NP_001317469.1:p.Leu37=
Search 100 bp 5'
Search 100 bp 3'