Canonical Allele Identifier: CA827694

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 1506301
• ClinVar RCV Id: RCV002006628
• dbSNP Id: rs202000595
• ExAC: 1:45973882 A / G
• gnomAD v2: 1-45973882-A-G
• gnomAD v3: 1-45508210-A-G
• gnomAD v4: 1-45508210-A-G
• MyVariant Identifiers: chr1:g.45973882A>G (hg19) ; chr1:g.45508210A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508210A>G , CM000663.2:g.45508210A>G	GRCh38
NC_000001.10:g.45973882A>G , CM000663.1:g.45973882A>G	GRCh37
NC_000001.9:g.45746469A>G	NCBI36
NG_013378.1:g.13027A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-2A>G MANE Select	ENSP00000383840.4:n.277-2A>G
ENST00000401061.8:c.277-2A>G	ENSP00000383840.4:n.277-2A>G
ENST00000616135.1:c.106-2A>G	ENSP00000478859.1:n.106-2A>G
NM_015506.2:c.277-2A>G	NP_056321.2:n.277-2A>G
XM_005270724.3:c.82-2A>G	XP_005270781.1:n.82-2A>G
XM_011541204.1:c.106-2A>G	XP_011539506.1:n.106-2A>G
NM_001330540.1:c.106-2A>G	NP_001317469.1:n.106-2A>G
XM_005270724.5:c.82-2A>G	XP_005270781.1:n.82-2A>G
NM_015506.3:c.277-2A>G MANE Select	NP_056321.2:n.277-2A>G
NM_001330540.2:c.106-2A>G	NP_001317469.1:n.106-2A>G