Canonical Allele Identifier: CA522558375
Gene: MMACHC HGNC NCBI

Linked Data

dbSNP Id: rs1370833841
gnomAD v2: 1-45965956-T-C
gnomAD v4: 1-45500284-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500284T>C , CM000663.2:g.45500284T>C GRCh38
NC_000001.10:g.45965956T>C , CM000663.1:g.45965956T>C GRCh37
NC_000001.9:g.45738543T>C NCBI36
NG_013378.1:g.5101T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.8:c.-49T>C ENSP00000383840.4:n.-49T>C
NM_015506.2:c.-49T>C NP_056321.2:n.-49T>C
NM_001330540.1:c.-271T>C NP_001317469.1:n.-271T>C
XM_005270724.5:c.-49T>C XP_005270781.1:n.-49T>C