Canonical Allele Identifier: CA827735

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 1564926
• ClinVar RCV Id: RCV002212976
• dbSNP Id: rs371226986
• ExAC: 1:45974050 T / G
• gnomAD v2: 1-45974050-T-G
• gnomAD v3: 1-45508378-T-G
• gnomAD v4: 1-45508378-T-G
• MyVariant Identifiers: chr1:g.45974050T>G (hg19) ; chr1:g.45508378T>G (hg38)

Genomic Alleles

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

Transcript Alleles

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