Canonical Allele Identifier: CA522810664

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 3019497
• ClinVar RCV Id: RCV003874608
• dbSNP Id: rs371226986
• gnomAD v2: 1-45974050-T-A
• gnomAD v4: 1-45508378-T-A
• MyVariant Identifiers: chr1:g.45974050T>A (hg19) ; chr1:g.45508378T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508378T>A , CM000663.2:g.45508378T>A	GRCh38
NC_000001.10:g.45974050T>A , CM000663.1:g.45974050T>A	GRCh37
NC_000001.9:g.45746637T>A	NCBI36
NG_013378.1:g.13195T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.429+14T>A MANE Select	ENSP00000383840.4:n.429+14T>A
ENST00000401061.8:c.429+14T>A	ENSP00000383840.4:n.429+14T>A
ENST00000616135.1:c.258+14T>A	ENSP00000478859.1:n.258+14T>A
NM_015506.2:c.429+14T>A	NP_056321.2:n.429+14T>A
XM_005270724.3:c.234+14T>A	XP_005270781.1:n.234+14T>A
XM_011541204.1:c.258+14T>A	XP_011539506.1:n.258+14T>A
NM_001330540.1:c.258+14T>A	NP_001317469.1:n.258+14T>A
XM_005270724.5:c.234+14T>A	XP_005270781.1:n.234+14T>A
NM_015506.3:c.429+14T>A MANE Select	NP_056321.2:n.429+14T>A
NM_001330540.2:c.258+14T>A	NP_001317469.1:n.258+14T>A