Canonical Allele Identifier: CA340128468

Gene: MMACHC

Linked Data

• gnomAD v4: 1-45500364-A-C
• MyVariant Identifiers: chr1:g.45966036A>C (hg19) ; chr1:g.45500364A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500364A>C , CM000663.2:g.45500364A>C	GRCh38
NC_000001.10:g.45966036A>C , CM000663.1:g.45966036A>C	GRCh37
NC_000001.9:g.45738623A>C	NCBI36
NG_013378.1:g.5181A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.32A>C MANE Select	ENSP00000383840.4:p.Lys11Thr
ENST00000401061.8:c.32A>C	ENSP00000383840.4:p.Lys11Thr
ENST00000616135.1:c.-140A>C	ENSP00000478859.1:n.-140A>C
NM_015506.2:c.32A>C	NP_056321.2:p.Lys11Thr
XM_005270724.3:c.32A>C	XP_005270781.1:p.Lys11Thr
XM_011541204.1:c.-191A>C	XP_011539506.1:n.-191A>C
NM_001330540.1:c.-191A>C	NP_001317469.1:n.-191A>C
XM_005270724.5:c.32A>C	XP_005270781.1:p.Lys11Thr
NM_015506.3:c.32A>C MANE Select	NP_056321.2:p.Lys11Thr
NM_001330540.2:c.-191A>C	NP_001317469.1:n.-191A>C