Canonical Allele Identifier: CA2473780155
Gene: MMACHC HGNC NCBI

Linked Data

dbSNP Id: rs1643512617

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500269A>C , CM000663.2:g.45500269A>C GRCh38
NC_000001.10:g.45965941A>C , CM000663.1:g.45965941A>C GRCh37
NC_000001.9:g.45738528A>C NCBI36
NG_013378.1:g.5086A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.8:c.-64A>C ENSP00000383840.4:n.-64A>C
NM_015506.2:c.-64A>C NP_056321.2:n.-64A>C
NM_001330540.1:c.-286A>C NP_001317469.1:n.-286A>C
XM_005270724.5:c.-64A>C XP_005270781.1:n.-64A>C