Canonical Allele Identifier: CA229152

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 100863
• ClinVar RCV Id: RCV000087225
• dbSNP Id: rs483352740
• MyVariant Identifiers: chr1:g.45974687G>T (hg19) ; chr1:g.45509015G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45509015G>T , CM000663.2:g.45509015G>T	GRCh38
NC_000001.10:g.45974687G>T , CM000663.1:g.45974687G>T	GRCh37
NC_000001.9:g.45747274G>T	NCBI36
NG_013378.1:g.13832G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.649G>T MANE Select	ENSP00000383840.4:p.Glu217Ter
ENST00000401061.8:c.649G>T	ENSP00000383840.4:p.Glu217Ter
ENST00000616135.1:c.478G>T	ENSP00000478859.1:p.Glu160Ter
NM_015506.2:c.649G>T	NP_056321.2:p.Glu217Ter
XM_005270724.3:c.454G>T	XP_005270781.1:p.Glu152Ter
XM_011541204.1:c.478G>T	XP_011539506.1:p.Glu160Ter
NM_001330540.1:c.478G>T	NP_001317469.1:p.Glu160Ter
XM_005270724.5:c.454G>T	XP_005270781.1:p.Glu152Ter
NM_015506.3:c.649G>T MANE Select	NP_056321.2:p.Glu217Ter
NM_001330540.2:c.478G>T	NP_001317469.1:p.Glu160Ter