Canonical Allele Identifier: CA340128325
Gene: MMACHC HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.45966017G>A (hg19) chr1:g.45500345G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500345G>A , CM000663.2:g.45500345G>A GRCh38
NC_000001.10:g.45966017G>A , CM000663.1:g.45966017G>A GRCh37
NC_000001.9:g.45738604G>A NCBI36
NG_013378.1:g.5162G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000401061.9:c.13G>A MANE Select ENSP00000383840.4:p.Val5Ile
ENST00000401061.8:c.13G>A ENSP00000383840.4:p.Val5Ile
ENST00000616135.1:c.-159G>A ENSP00000478859.1:n.-159G>A
NM_015506.2:c.13G>A NP_056321.2:p.Val5Ile
XM_005270724.3:c.13G>A XP_005270781.1:p.Val5Ile
XM_011541204.1:c.-210G>A XP_011539506.1:n.-210G>A
NM_001330540.1:c.-210G>A NP_001317469.1:n.-210G>A
XM_005270724.5:c.13G>A XP_005270781.1:p.Val5Ile
NM_015506.3:c.13G>A MANE Select NP_056321.2:p.Val5Ile
NM_001330540.2:c.-210G>A NP_001317469.1:n.-210G>A
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