Canonical Allele Identifier: CA1001254723

Gene: MMACHC

Linked Data

• gnomAD v3: 1-45500475-G-GT
• gnomAD v4: 1-45500475-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500476dup , CM000663.2:g.45500476dup	GRCh38
NC_000001.10:g.45966148dup , CM000663.1:g.45966148dup	GRCh37
NC_000001.9:g.45738735dup	NCBI36
NG_013378.1:g.5293dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.81+63dup MANE Select	ENSP00000383840.4:n.81+63dup
ENST00000401061.8:c.81+63dup	ENSP00000383840.4:n.81+63dup
ENST00000616135.1:c.-91+63dup	ENSP00000478859.1:n.-91+63dup
NM_015506.2:c.81+63dup	NP_056321.2:n.81+63dup
XM_005270724.3:c.81+63dup	XP_005270781.1:n.81+63dup
XM_011541204.1:c.-142+63dup	XP_011539506.1:n.-142+63dup
NM_001330540.1:c.-142+63dup	NP_001317469.1:n.-142+63dup
XM_005270724.5:c.81+63dup	XP_005270781.1:n.81+63dup
NM_015506.3:c.81+63dup MANE Select	NP_056321.2:n.81+63dup
NM_001330540.2:c.-142+63dup	NP_001317469.1:n.-142+63dup