Canonical Allele Identifier: CA827721

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 297484
• ClinVar RCV Id: RCV000260401 ; RCV000504286 ; RCV001074563 ; RCV001582921 ; RCV003417958
• dbSNP Id: rs200094982
• ExAC: 1:45973996 A / G
• gnomAD v2: 1-45973996-A-G
• gnomAD v3: 1-45508324-A-G
• gnomAD v4: 1-45508324-A-G
• MyVariant Identifiers: chr1:g.45973996A>G (hg19) ; chr1:g.45508324A>G (hg38)
• PubMed: PMID:19370762 ; PMID:24210589

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508324A>G , CM000663.2:g.45508324A>G	GRCh38
NC_000001.10:g.45973996A>G , CM000663.1:g.45973996A>G	GRCh37
NC_000001.9:g.45746583A>G	NCBI36
NG_013378.1:g.13141A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.389A>G MANE Select	ENSP00000383840.4:p.Tyr130Cys
ENST00000401061.8:c.389A>G	ENSP00000383840.4:p.Tyr130Cys
ENST00000616135.1:c.218A>G	ENSP00000478859.1:p.Tyr73Cys
NM_015506.2:c.389A>G	NP_056321.2:p.Tyr130Cys
XM_005270724.3:c.194A>G	XP_005270781.1:p.Tyr65Cys
XM_011541204.1:c.218A>G	XP_011539506.1:p.Tyr73Cys
NM_001330540.1:c.218A>G	NP_001317469.1:p.Tyr73Cys
XM_005270724.5:c.194A>G	XP_005270781.1:p.Tyr65Cys
NM_015506.3:c.389A>G MANE Select	NP_056321.2:p.Tyr130Cys
NM_001330540.2:c.218A>G	NP_001317469.1:p.Tyr73Cys