Canonical Allele Identifier: CA2473783528

Gene: MMACHC

Linked Data

• dbSNP Id: rs759702028
• gnomAD v3: 1-45508582-G-A
• gnomAD v4: 1-45508582-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508582G>A , CM000663.2:g.45508582G>A	GRCh38
NC_000001.10:g.45974254G>A , CM000663.1:g.45974254G>A	GRCh37
NC_000001.9:g.45746841G>A	NCBI36
NG_013378.1:g.13399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.430-214G>A MANE Select	ENSP00000383840.4:n.430-214G>A
ENST00000401061.8:c.430-214G>A	ENSP00000383840.4:n.430-214G>A
ENST00000616135.1:c.259-214G>A	ENSP00000478859.1:n.259-214G>A
NM_015506.2:c.430-214G>A	NP_056321.2:n.430-214G>A
XM_005270724.3:c.235-214G>A	XP_005270781.1:n.235-214G>A
XM_011541204.1:c.259-214G>A	XP_011539506.1:n.259-214G>A
NM_001330540.1:c.259-214G>A	NP_001317469.1:n.259-214G>A
XM_005270724.5:c.235-214G>A	XP_005270781.1:n.235-214G>A
NM_015506.3:c.430-214G>A MANE Select	NP_056321.2:n.430-214G>A
NM_001330540.2:c.259-214G>A	NP_001317469.1:n.259-214G>A