Canonical Allele Identifier: CA827646
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 465312
ClinVar RCV Id: RCV000526858 RCV000601527 RCV001273212 RCV001701035 RCV003905396
dbSNP Id: rs201112314
ExAC: 1:45973072 G / A
gnomAD v2: 1-45973072-G-A
gnomAD v3: 1-45507400-G-A
gnomAD v4: 1-45507400-G-A
MyVariant Identifiers: chr1:g.45973072G>A (hg19) chr1:g.45507400G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45507400G>A , CM000663.2:g.45507400G>A GRCh38
NC_000001.10:g.45973072G>A , CM000663.1:g.45973072G>A GRCh37
NC_000001.9:g.45745659G>A NCBI36
NG_013378.1:g.12217G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000401061.9:c.126G>A MANE Select ENSP00000383840.4:p.Pro42=
ENST00000401061.8:c.126G>A ENSP00000383840.4:p.Pro42=
ENST00000616135.1:c.-46G>A ENSP00000478859.1:n.-46G>A
NM_015506.2:c.126G>A NP_056321.2:p.Pro42=
XM_005270724.3:c.82-812G>A XP_005270781.1:n.82-812G>A
XM_011541204.1:c.-46G>A XP_011539506.1:n.-46G>A
NM_001330540.1:c.-46G>A NP_001317469.1:n.-46G>A
XM_005270724.5:c.82-812G>A XP_005270781.1:n.82-812G>A
NM_015506.3:c.126G>A MANE Select NP_056321.2:p.Pro42=
NM_001330540.2:c.-46G>A NP_001317469.1:n.-46G>A
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