Canonical Allele Identifier: CA417703431

Gene: MMACHC

Linked Data

• gnomAD v4: 1-45500368-C-A
• MyVariant Identifiers: chr1:g.45966040C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500368C>A , CM000663.2:g.45500368C>A	GRCh38
NC_000001.10:g.45966040C>A , CM000663.1:g.45966040C>A	GRCh37
NC_000001.9:g.45738627C>A	NCBI36
NG_013378.1:g.5185C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.36C>A MANE Select	ENSP00000383840.4:p.Ile12=
ENST00000401061.8:c.36C>A	ENSP00000383840.4:p.Ile12=
ENST00000616135.1:c.-136C>A	ENSP00000478859.1:n.-136C>A
NM_015506.2:c.36C>A	NP_056321.2:p.Ile12=
XM_005270724.3:c.36C>A	XP_005270781.1:p.Ile12=
XM_011541204.1:c.-187C>A	XP_011539506.1:n.-187C>A
NM_001330540.1:c.-187C>A	NP_001317469.1:n.-187C>A
XM_005270724.5:c.36C>A	XP_005270781.1:p.Ile12=
NM_015506.3:c.36C>A MANE Select	NP_056321.2:p.Ile12=
NM_001330540.2:c.-187C>A	NP_001317469.1:n.-187C>A