Canonical Allele Identifier: CA2473780318

Gene: MMACHC

Linked Data

• dbSNP Id: rs1643527786

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500693dup , CM000663.2:g.45500693dup	GRCh38
NC_000001.10:g.45966365dup , CM000663.1:g.45966365dup	GRCh37
NC_000001.9:g.45738952dup	NCBI36
NG_013378.1:g.5510dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.81+280dup MANE Select	ENSP00000383840.4:n.81+280dup
ENST00000401061.8:c.81+280dup	ENSP00000383840.4:n.81+280dup
ENST00000616135.1:c.-91+280dup	ENSP00000478859.1:n.-91+280dup
NM_015506.2:c.81+280dup	NP_056321.2:n.81+280dup
XM_005270724.3:c.81+280dup	XP_005270781.1:n.81+280dup
XM_011541204.1:c.-142+280dup	XP_011539506.1:n.-142+280dup
NM_001330540.1:c.-142+280dup	NP_001317469.1:n.-142+280dup
XM_005270724.5:c.81+280dup	XP_005270781.1:n.81+280dup
NM_015506.3:c.81+280dup MANE Select	NP_056321.2:n.81+280dup
NM_001330540.2:c.-142+280dup	NP_001317469.1:n.-142+280dup