Canonical Allele Identifier: CA2697552412
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 2719430
ClinVar RCV Id: RCV003496903
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508376A>C , CM000663.2:g.45508376A>C GRCh38
NC_000001.10:g.45974048A>C , CM000663.1:g.45974048A>C GRCh37
NC_000001.9:g.45746635A>C NCBI36
NG_013378.1:g.13193A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.429+12A>C MANE Select ENSP00000383840.4:n.429+12A>C
ENST00000401061.8:c.429+12A>C ENSP00000383840.4:n.429+12A>C
ENST00000616135.1:c.258+12A>C ENSP00000478859.1:n.258+12A>C
NM_015506.2:c.429+12A>C NP_056321.2:n.429+12A>C
XM_005270724.3:c.234+12A>C XP_005270781.1:n.234+12A>C
XM_011541204.1:c.258+12A>C XP_011539506.1:n.258+12A>C
NM_001330540.1:c.258+12A>C NP_001317469.1:n.258+12A>C
XM_005270724.5:c.234+12A>C XP_005270781.1:n.234+12A>C
NM_015506.3:c.429+12A>C MANE Select NP_056321.2:n.429+12A>C
NM_001330540.2:c.258+12A>C NP_001317469.1:n.258+12A>C
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