Canonical Allele Identifier: CA827811

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 2188165
• ClinVar RCV Id: RCV002616324 ; RCV002616325 ; RCV003481399
• dbSNP Id: rs376653350
• ExAC: 1:45974664 T / A
• gnomAD v2: 1-45974664-T-A
• gnomAD v3: 1-45508992-T-A
• gnomAD v4: 1-45508992-T-A
• MyVariant Identifiers: chr1:g.45974664T>A (hg19) ; chr1:g.45508992T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508992T>A , CM000663.2:g.45508992T>A	GRCh38
NC_000001.10:g.45974664T>A , CM000663.1:g.45974664T>A	GRCh37
NC_000001.9:g.45747251T>A	NCBI36
NG_013378.1:g.13809T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.626T>A MANE Select	ENSP00000383840.4:p.Val209Glu
ENST00000401061.8:c.626T>A	ENSP00000383840.4:p.Val209Glu
ENST00000616135.1:c.455T>A	ENSP00000478859.1:p.Val152Glu
NM_015506.2:c.626T>A	NP_056321.2:p.Val209Glu
XM_005270724.3:c.431T>A	XP_005270781.1:p.Val144Glu
XM_011541204.1:c.455T>A	XP_011539506.1:p.Val152Glu
NM_001330540.1:c.455T>A	NP_001317469.1:p.Val152Glu
XM_005270724.5:c.431T>A	XP_005270781.1:p.Val144Glu
NM_015506.3:c.626T>A MANE Select	NP_056321.2:p.Val209Glu
NM_001330540.2:c.455T>A	NP_001317469.1:p.Val152Glu