Canonical Allele Identifier: CA827607

Gene: MMACHC

Linked Data

• dbSNP Id: rs765601770
• ExAC: 1:45966048 C / T
• gnomAD v2: 1-45966048-C-T
• gnomAD v4: 1-45500376-C-T
• MyVariant Identifiers: chr1:g.45966048C>T (hg19) ; chr1:g.45500376C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500376C>T , CM000663.2:g.45500376C>T	GRCh38
NC_000001.10:g.45966048C>T , CM000663.1:g.45966048C>T	GRCh37
NC_000001.9:g.45738635C>T	NCBI36
NG_013378.1:g.5193C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.44C>T MANE Select	ENSP00000383840.4:p.Thr15Met
ENST00000401061.8:c.44C>T	ENSP00000383840.4:p.Thr15Met
ENST00000616135.1:c.-128C>T	ENSP00000478859.1:n.-128C>T
NM_015506.2:c.44C>T	NP_056321.2:p.Thr15Met
XM_005270724.3:c.44C>T	XP_005270781.1:p.Thr15Met
XM_011541204.1:c.-179C>T	XP_011539506.1:n.-179C>T
NM_001330540.1:c.-179C>T	NP_001317469.1:n.-179C>T
XM_005270724.5:c.44C>T	XP_005270781.1:p.Thr15Met
NM_015506.3:c.44C>T MANE Select	NP_056321.2:p.Thr15Met
NM_001330540.2:c.-179C>T	NP_001317469.1:n.-179C>T