Canonical Allele Identifier: CA2574352253
Gene: MMACHC HGNC NCBI

Linked Data

gnomAD v4: 1-45508385-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508385A>G , CM000663.2:g.45508385A>G GRCh38
NC_000001.10:g.45974057A>G , CM000663.1:g.45974057A>G GRCh37
NC_000001.9:g.45746644A>G NCBI36
NG_013378.1:g.13202A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.429+21A>G MANE Select ENSP00000383840.4:n.429+21A>G
ENST00000401061.8:c.429+21A>G ENSP00000383840.4:n.429+21A>G
ENST00000616135.1:c.258+21A>G ENSP00000478859.1:n.258+21A>G
NM_015506.2:c.429+21A>G NP_056321.2:n.429+21A>G
XM_005270724.3:c.234+21A>G XP_005270781.1:n.234+21A>G
XM_011541204.1:c.258+21A>G XP_011539506.1:n.258+21A>G
NM_001330540.1:c.258+21A>G NP_001317469.1:n.258+21A>G
XM_005270724.5:c.234+21A>G XP_005270781.1:n.234+21A>G
NM_015506.3:c.429+21A>G MANE Select NP_056321.2:n.429+21A>G
NM_001330540.2:c.258+21A>G NP_001317469.1:n.258+21A>G
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