Canonical Allele Identifier: CA340132514
Gene: MMACHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508356G>C , CM000663.2:g.45508356G>C GRCh38
NC_000001.10:g.45974028G>C , CM000663.1:g.45974028G>C GRCh37
NC_000001.9:g.45746615G>C NCBI36
NG_013378.1:g.13173G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.421G>C MANE Select ENSP00000383840.4:p.Gly141Arg
ENST00000401061.8:c.421G>C ENSP00000383840.4:p.Gly141Arg
ENST00000616135.1:c.250G>C ENSP00000478859.1:p.Gly84Arg
NM_015506.2:c.421G>C NP_056321.2:p.Gly141Arg
XM_005270724.3:c.226G>C XP_005270781.1:p.Gly76Arg
XM_011541204.1:c.250G>C XP_011539506.1:p.Gly84Arg
NM_001330540.1:c.250G>C NP_001317469.1:p.Gly84Arg
XM_005270724.5:c.226G>C XP_005270781.1:p.Gly76Arg
NM_015506.3:c.421G>C MANE Select NP_056321.2:p.Gly141Arg
NM_001330540.2:c.250G>C NP_001317469.1:p.Gly84Arg