Canonical Allele Identifier: CA340131489
Gene: MMACHC HGNC NCBI

Linked Data

dbSNP Id: rs1570829600

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45507413A>G , CM000663.2:g.45507413A>G GRCh38
NC_000001.10:g.45973085A>G , CM000663.1:g.45973085A>G GRCh37
NC_000001.9:g.45745672A>G NCBI36
NG_013378.1:g.12230A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.139A>G MANE Select ENSP00000383840.4:p.Thr47Ala
ENST00000401061.8:c.139A>G ENSP00000383840.4:p.Thr47Ala
ENST00000616135.1:c.-33A>G ENSP00000478859.1:n.-33A>G
NM_015506.2:c.139A>G NP_056321.2:p.Thr47Ala
XM_005270724.3:c.82-799A>G XP_005270781.1:n.82-799A>G
XM_011541204.1:c.-33A>G XP_011539506.1:n.-33A>G
NM_001330540.1:c.-33A>G NP_001317469.1:n.-33A>G
XM_005270724.5:c.82-799A>G XP_005270781.1:n.82-799A>G
NM_015506.3:c.139A>G MANE Select NP_056321.2:p.Thr47Ala
NM_001330540.2:c.-33A>G NP_001317469.1:n.-33A>G