Canonical Allele Identifier: CA340132162

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 451076
• ClinVar RCV Id: RCV000519990 ; RCV001829506
• dbSNP Id: rs1553162829
• gnomAD v4: 1-45508246-A-T
• MyVariant Identifiers: chr1:g.45973918A>T (hg19) ; chr1:g.45508246A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508246A>T , CM000663.2:g.45508246A>T	GRCh38
NC_000001.10:g.45973918A>T , CM000663.1:g.45973918A>T	GRCh37
NC_000001.9:g.45746505A>T	NCBI36
NG_013378.1:g.13063A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.311A>T MANE Select	ENSP00000383840.4:p.Asp104Val
ENST00000401061.8:c.311A>T	ENSP00000383840.4:p.Asp104Val
ENST00000616135.1:c.140A>T	ENSP00000478859.1:p.Asp47Val
NM_015506.2:c.311A>T	NP_056321.2:p.Asp104Val
XM_005270724.3:c.116A>T	XP_005270781.1:p.Asp39Val
XM_011541204.1:c.140A>T	XP_011539506.1:p.Asp47Val
NM_001330540.1:c.140A>T	NP_001317469.1:p.Asp47Val
XM_005270724.5:c.116A>T	XP_005270781.1:p.Asp39Val
NM_015506.3:c.311A>T MANE Select	NP_056321.2:p.Asp104Val
NM_001330540.2:c.140A>T	NP_001317469.1:p.Asp47Val