Canonical Allele Identifier: CA1001254560

Gene: MMACHC

Linked Data

• gnomAD v3: 1-45500166-GGAGGAAACGAACTACGCATCCCAAGATGCATCGCGCATAGGCAATATGGTCCCGCTACTGGACCCATTTCCTACCTGGGAAATGGAGTCGAAGCTGACTCAAAAC-G
• gnomAD v4: 1-45500166-GGAGGAAACGAACTACGCATCCCAAGATGCATCGCGCATAGGCAATATGGTCCCGCTACTGGACCCATTTCCTACCTGGGAAATGGAGTCGAAGCTGACTCAAAAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500168_45500272del , CM000663.2:g.45500168_45500272del	GRCh38
NC_000001.10:g.45965840_45965944del , CM000663.1:g.45965840_45965944del	GRCh37
NC_000001.9:g.45738427_45738531del	NCBI36
NG_013378.1:g.4985_5089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.8:c.-165_-61del	ENSP00000383840.4:n.-165_-61del