Canonical Allele Identifier: CA646308959
Gene: MMACHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500277G>C , CM000663.2:g.45500277G>C GRCh38
NC_000001.10:g.45965949G>C , CM000663.1:g.45965949G>C GRCh37
NC_000001.9:g.45738536G>C NCBI36
NG_013378.1:g.5094G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.8:c.-56G>C ENSP00000383840.4:n.-56G>C
NM_015506.2:c.-56G>C NP_056321.2:n.-56G>C
NM_001330540.1:c.-278G>C NP_001317469.1:n.-278G>C
XM_005270724.5:c.-56G>C XP_005270781.1:n.-56G>C