Canonical Allele Identifier: CA21825901

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 2725295
• ClinVar RCV Id: RCV003497071
• dbSNP Id: rs758477536
• MyVariant Identifiers: chr1:g.45966005A>T (hg19) ; chr1:g.45500333A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500333A>T , CM000663.2:g.45500333A>T	GRCh38
NC_000001.10:g.45966005A>T , CM000663.1:g.45966005A>T	GRCh37
NC_000001.9:g.45738592A>T	NCBI36
NG_013378.1:g.5150A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.1A>T MANE Select	ENSP00000383840.4:p.Met1Leu
ENST00000401061.8:c.1A>T	ENSP00000383840.4:p.Met1Leu
NM_015506.2:c.1A>T	NP_056321.2:p.Met1Leu
XM_005270724.3:c.1A>T	XP_005270781.1:p.Met1Leu
XM_011541204.1:c.-222A>T	XP_011539506.1:n.-222A>T
NM_001330540.1:c.-222A>T	NP_001317469.1:n.-222A>T
XM_005270724.5:c.1A>T	XP_005270781.1:p.Met1Leu
NM_015506.3:c.1A>T MANE Select	NP_056321.2:p.Met1Leu
NM_001330540.2:c.-222A>T	NP_001317469.1:n.-222A>T