Canonical Allele Identifier: CA21828958

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 1625256
• ClinVar RCV Id: RCV002130274
• dbSNP Id: rs543041810
• gnomAD v3: 1-45507563-C-G
• gnomAD v4: 1-45507563-C-G
• MyVariant Identifiers: chr1:g.45973235C>G (hg19) ; chr1:g.45507563C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507563C>G , CM000663.2:g.45507563C>G	GRCh38
NC_000001.10:g.45973235C>G , CM000663.1:g.45973235C>G	GRCh37
NC_000001.9:g.45745822C>G	NCBI36
NG_013378.1:g.12380C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.276+13C>G MANE Select	ENSP00000383840.4:n.276+13C>G
ENST00000401061.8:c.276+13C>G	ENSP00000383840.4:n.276+13C>G
ENST00000616135.1:c.105+13C>G	ENSP00000478859.1:n.105+13C>G
NM_015506.2:c.276+13C>G	NP_056321.2:n.276+13C>G
XM_005270724.3:c.82-649C>G	XP_005270781.1:n.82-649C>G
XM_011541204.1:c.105+13C>G	XP_011539506.1:n.105+13C>G
NM_001330540.1:c.105+13C>G	NP_001317469.1:n.105+13C>G
XM_005270724.5:c.82-649C>G	XP_005270781.1:n.82-649C>G
NM_015506.3:c.276+13C>G MANE Select	NP_056321.2:n.276+13C>G
NM_001330540.2:c.105+13C>G	NP_001317469.1:n.105+13C>G