Canonical Allele Identifier: CA340132174

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 553788
• ClinVar RCV Id: RCV000669305
• dbSNP Id: rs528744719
• gnomAD v3: 1-45508250-C-G
• gnomAD v4: 1-45508250-C-G
• MyVariant Identifiers: chr1:g.45973922C>G (hg19) ; chr1:g.45508250C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508250C>G , CM000663.2:g.45508250C>G	GRCh38
NC_000001.10:g.45973922C>G , CM000663.1:g.45973922C>G	GRCh37
NC_000001.9:g.45746509C>G	NCBI36
NG_013378.1:g.13067C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.315C>G MANE Select	ENSP00000383840.4:p.Tyr105Ter
ENST00000401061.8:c.315C>G	ENSP00000383840.4:p.Tyr105Ter
ENST00000616135.1:c.144C>G	ENSP00000478859.1:p.Tyr48Ter
NM_015506.2:c.315C>G	NP_056321.2:p.Tyr105Ter
XM_005270724.3:c.120C>G	XP_005270781.1:p.Tyr40Ter
XM_011541204.1:c.144C>G	XP_011539506.1:p.Tyr48Ter
NM_001330540.1:c.144C>G	NP_001317469.1:p.Tyr48Ter
XM_005270724.5:c.120C>G	XP_005270781.1:p.Tyr40Ter
NM_015506.3:c.315C>G MANE Select	NP_056321.2:p.Tyr105Ter
NM_001330540.2:c.144C>G	NP_001317469.1:p.Tyr48Ter