Canonical Allele Identifier: CA417881520

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 2830152
• ClinVar RCV Id: RCV003602061
• dbSNP Id: rs1261921629
• gnomAD v4: 1-45508984-G-A
• MyVariant Identifiers: chr1:g.45974656G>A (hg19) ; chr1:g.45508984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508984G>A , CM000663.2:g.45508984G>A	GRCh38
NC_000001.10:g.45974656G>A , CM000663.1:g.45974656G>A	GRCh37
NC_000001.9:g.45747243G>A	NCBI36
NG_013378.1:g.13801G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.618G>A MANE Select	ENSP00000383840.4:p.Arg206=
ENST00000401061.8:c.618G>A	ENSP00000383840.4:p.Arg206=
ENST00000616135.1:c.447G>A	ENSP00000478859.1:p.Arg149=
NM_015506.2:c.618G>A	NP_056321.2:p.Arg206=
XM_005270724.3:c.423G>A	XP_005270781.1:p.Arg141=
XM_011541204.1:c.447G>A	XP_011539506.1:p.Arg149=
NM_001330540.1:c.447G>A	NP_001317469.1:p.Arg149=
XM_005270724.5:c.423G>A	XP_005270781.1:p.Arg141=
NM_015506.3:c.618G>A MANE Select	NP_056321.2:p.Arg206=
NM_001330540.2:c.447G>A	NP_001317469.1:p.Arg149=