Canonical Allele Identifier: CA827791

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 558690
• ClinVar RCV Id: RCV000674997 ; RCV001273232
• dbSNP Id: rs200895671
• ExAC: 1:45974603 C / A
• gnomAD v2: 1-45974603-C-A
• gnomAD v3: 1-45508931-C-A
• gnomAD v4: 1-45508931-C-A
• MyVariant Identifiers: chr1:g.45974603C>A (hg19) ; chr1:g.45508931C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508931C>A , CM000663.2:g.45508931C>A	GRCh38
NC_000001.10:g.45974603C>A , CM000663.1:g.45974603C>A	GRCh37
NC_000001.9:g.45747190C>A	NCBI36
NG_013378.1:g.13748C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.565C>A MANE Select	ENSP00000383840.4:p.Arg189Ser
ENST00000401061.8:c.565C>A	ENSP00000383840.4:p.Arg189Ser
ENST00000616135.1:c.394C>A	ENSP00000478859.1:p.Arg132Ser
NM_015506.2:c.565C>A	NP_056321.2:p.Arg189Ser
XM_005270724.3:c.370C>A	XP_005270781.1:p.Arg124Ser
XM_011541204.1:c.394C>A	XP_011539506.1:p.Arg132Ser
NM_001330540.1:c.394C>A	NP_001317469.1:p.Arg132Ser
XM_005270724.5:c.370C>A	XP_005270781.1:p.Arg124Ser
NM_015506.3:c.565C>A MANE Select	NP_056321.2:p.Arg189Ser
NM_001330540.2:c.394C>A	NP_001317469.1:p.Arg132Ser