Canonical Allele Identifier: CA2473783628
Gene: MMACHC HGNC NCBI

Linked Data

dbSNP Id: rs778884830
gnomAD v4: 1-45508766-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508766T>A , CM000663.2:g.45508766T>A GRCh38
NC_000001.10:g.45974438T>A , CM000663.1:g.45974438T>A GRCh37
NC_000001.9:g.45747025T>A NCBI36
NG_013378.1:g.13583T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000401061.9:c.430-30T>A MANE Select ENSP00000383840.4:n.430-30T>A
ENST00000401061.8:c.430-30T>A ENSP00000383840.4:n.430-30T>A
ENST00000616135.1:c.259-30T>A ENSP00000478859.1:n.259-30T>A
NM_015506.2:c.430-30T>A NP_056321.2:n.430-30T>A
XM_005270724.3:c.235-30T>A XP_005270781.1:n.235-30T>A
XM_011541204.1:c.259-30T>A XP_011539506.1:n.259-30T>A
NM_001330540.1:c.259-30T>A NP_001317469.1:n.259-30T>A
XM_005270724.5:c.235-30T>A XP_005270781.1:n.235-30T>A
NM_015506.3:c.430-30T>A MANE Select NP_056321.2:n.430-30T>A
NM_001330540.2:c.259-30T>A NP_001317469.1:n.259-30T>A
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