Canonical Allele Identifier: CA827797

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 577085
• ClinVar RCV Id: RCV000699750
• dbSNP Id: rs375442063
• ExAC: 1:45974610 C / T
• gnomAD v2: 1-45974610-C-T
• gnomAD v3: 1-45508938-C-T
• gnomAD v4: 1-45508938-C-T
• MyVariant Identifiers: chr1:g.45974610C>T (hg19) ; chr1:g.45508938C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508938C>T , CM000663.2:g.45508938C>T	GRCh38
NC_000001.10:g.45974610C>T , CM000663.1:g.45974610C>T	GRCh37
NC_000001.9:g.45747197C>T	NCBI36
NG_013378.1:g.13755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.572C>T MANE Select	ENSP00000383840.4:p.Ala191Val
ENST00000401061.8:c.572C>T	ENSP00000383840.4:p.Ala191Val
ENST00000616135.1:c.401C>T	ENSP00000478859.1:p.Ala134Val
NM_015506.2:c.572C>T	NP_056321.2:p.Ala191Val
XM_005270724.3:c.377C>T	XP_005270781.1:p.Ala126Val
XM_011541204.1:c.401C>T	XP_011539506.1:p.Ala134Val
NM_001330540.1:c.401C>T	NP_001317469.1:p.Ala134Val
XM_005270724.5:c.377C>T	XP_005270781.1:p.Ala126Val
NM_015506.3:c.572C>T MANE Select	NP_056321.2:p.Ala191Val
NM_001330540.2:c.401C>T	NP_001317469.1:p.Ala134Val