Canonical Allele Identifier: CA1001254753

Gene: MMACHC

Linked Data

• dbSNP Id: rs1643523244
• gnomAD v3: 1-45500547-T-G
• gnomAD v4: 1-45500547-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500547T>G , CM000663.2:g.45500547T>G	GRCh38
NC_000001.10:g.45966219T>G , CM000663.1:g.45966219T>G	GRCh37
NC_000001.9:g.45738806T>G	NCBI36
NG_013378.1:g.5364T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.81+134T>G MANE Select	ENSP00000383840.4:n.81+134T>G
ENST00000401061.8:c.81+134T>G	ENSP00000383840.4:n.81+134T>G
ENST00000616135.1:c.-91+134T>G	ENSP00000478859.1:n.-91+134T>G
NM_015506.2:c.81+134T>G	NP_056321.2:n.81+134T>G
XM_005270724.3:c.81+134T>G	XP_005270781.1:n.81+134T>G
XM_011541204.1:c.-142+134T>G	XP_011539506.1:n.-142+134T>G
NM_001330540.1:c.-142+134T>G	NP_001317469.1:n.-142+134T>G
XM_005270724.5:c.81+134T>G	XP_005270781.1:n.81+134T>G
NM_015506.3:c.81+134T>G MANE Select	NP_056321.2:n.81+134T>G
NM_001330540.2:c.-142+134T>G	NP_001317469.1:n.-142+134T>G