Canonical Allele Identifier: CA340131448
Gene: MMACHC HGNC NCBI

Linked Data

gnomAD v4: 1-45507402-T-C
MyVariant Identifiers: chr1:g.45973074T>C (hg19) chr1:g.45507402T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45507402T>C , CM000663.2:g.45507402T>C GRCh38
NC_000001.10:g.45973074T>C , CM000663.1:g.45973074T>C GRCh37
NC_000001.9:g.45745661T>C NCBI36
NG_013378.1:g.12219T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000401061.9:c.128T>C MANE Select ENSP00000383840.4:p.Leu43Pro
ENST00000401061.8:c.128T>C ENSP00000383840.4:p.Leu43Pro
ENST00000616135.1:c.-44T>C ENSP00000478859.1:n.-44T>C
NM_015506.2:c.128T>C NP_056321.2:p.Leu43Pro
XM_005270724.3:c.82-810T>C XP_005270781.1:n.82-810T>C
XM_011541204.1:c.-44T>C XP_011539506.1:n.-44T>C
NM_001330540.1:c.-44T>C NP_001317469.1:n.-44T>C
XM_005270724.5:c.82-810T>C XP_005270781.1:n.82-810T>C
NM_015506.3:c.128T>C MANE Select NP_056321.2:p.Leu43Pro
NM_001330540.2:c.-44T>C NP_001317469.1:n.-44T>C
Search 100 bp 5'
Search 100 bp 3'