Canonical Allele Identifier: CA340133696

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 558321
• ClinVar RCV Id: RCV000674571
• dbSNP Id: rs371753672
• gnomAD v2: 1-45974655-G-C
• gnomAD v3: 1-45508983-G-C
• gnomAD v4: 1-45508983-G-C
• MyVariant Identifiers: chr1:g.45974655G>C (hg19) ; chr1:g.45508983G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508983G>C , CM000663.2:g.45508983G>C	GRCh38
NC_000001.10:g.45974655G>C , CM000663.1:g.45974655G>C	GRCh37
NC_000001.9:g.45747242G>C	NCBI36
NG_013378.1:g.13800G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.617G>C MANE Select	ENSP00000383840.4:p.Arg206Pro
ENST00000401061.8:c.617G>C	ENSP00000383840.4:p.Arg206Pro
ENST00000616135.1:c.446G>C	ENSP00000478859.1:p.Arg149Pro
NM_015506.2:c.617G>C	NP_056321.2:p.Arg206Pro
XM_005270724.3:c.422G>C	XP_005270781.1:p.Arg141Pro
XM_011541204.1:c.446G>C	XP_011539506.1:p.Arg149Pro
NM_001330540.1:c.446G>C	NP_001317469.1:p.Arg149Pro
XM_005270724.5:c.422G>C	XP_005270781.1:p.Arg141Pro
NM_015506.3:c.617G>C MANE Select	NP_056321.2:p.Arg206Pro
NM_001330540.2:c.446G>C	NP_001317469.1:p.Arg149Pro