Canonical Allele Identifier: CA827746
Gene: MMACHC HGNC NCBI

Linked Data

dbSNP Id: rs775779524
ExAC: 1:45974441 CCTTG / C
gnomAD v2: 1-45974441-CCTTG-C
gnomAD v4: 1-45508769-CCTTG-C
MyVariant Identifiers: chr1:g.45974442_45974445del (hg19) chr1:g.45508770_45508773del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508773_45508776del , CM000663.2:g.45508773_45508776del GRCh38
NC_000001.10:g.45974445_45974448del , CM000663.1:g.45974445_45974448del GRCh37
NC_000001.9:g.45747032_45747035del NCBI36
NG_013378.1:g.13590_13593del

Transcript Alleles

HGVS Amino-acid change
ENST00000401061.9:c.430-23_430-20del MANE Select ENSP00000383840.4:n.430-23_430-20del
ENST00000401061.8:c.430-23_430-20del ENSP00000383840.4:n.430-23_430-20del
ENST00000616135.1:c.259-23_259-20del ENSP00000478859.1:n.259-23_259-20del
NM_015506.2:c.430-23_430-20del NP_056321.2:n.430-23_430-20del
XM_005270724.3:c.235-23_235-20del XP_005270781.1:n.235-23_235-20del
XM_011541204.1:c.259-23_259-20del XP_011539506.1:n.259-23_259-20del
NM_001330540.1:c.259-23_259-20del NP_001317469.1:n.259-23_259-20del
XM_005270724.5:c.235-23_235-20del XP_005270781.1:n.235-23_235-20del
NM_015506.3:c.430-23_430-20del MANE Select NP_056321.2:n.430-23_430-20del
NM_001330540.2:c.259-23_259-20del NP_001317469.1:n.259-23_259-20del
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