Canonical Allele Identifier: CA916166621
Gene: MMACHC HGNC NCBI

Linked Data

dbSNP Id: rs1570832446
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508749_45508757del , CM000663.2:g.45508749_45508757del GRCh38
NC_000001.10:g.45974421_45974429del , CM000663.1:g.45974421_45974429del GRCh37
NC_000001.9:g.45747008_45747016del NCBI36
NG_013378.1:g.13566_13574del

Transcript Alleles

HGVS Amino-acid change
ENST00000401061.9:c.430-47_430-39del MANE Select ENSP00000383840.4:n.430-47_430-39del
ENST00000401061.8:c.430-47_430-39del ENSP00000383840.4:n.430-47_430-39del
ENST00000616135.1:c.259-47_259-39del ENSP00000478859.1:n.259-47_259-39del
NM_015506.2:c.430-47_430-39del NP_056321.2:n.430-47_430-39del
XM_005270724.3:c.235-47_235-39del XP_005270781.1:n.235-47_235-39del
XM_011541204.1:c.259-47_259-39del XP_011539506.1:n.259-47_259-39del
NM_001330540.1:c.259-47_259-39del NP_001317469.1:n.259-47_259-39del
XM_005270724.5:c.235-47_235-39del XP_005270781.1:n.235-47_235-39del
NM_015506.3:c.430-47_430-39del MANE Select NP_056321.2:n.430-47_430-39del
NM_001330540.2:c.259-47_259-39del NP_001317469.1:n.259-47_259-39del
Search 100 bp 5'
Search 100 bp 3'