Canonical Allele Identifier: CA340128613

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 2676619
• ClinVar RCV Id: RCV003461865
• MyVariant Identifiers: chr1:g.45966055T>A (hg19) ; chr1:g.45500383T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500383T>A , CM000663.2:g.45500383T>A	GRCh38
NC_000001.10:g.45966055T>A , CM000663.1:g.45966055T>A	GRCh37
NC_000001.9:g.45738642T>A	NCBI36
NG_013378.1:g.5200T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.51T>A MANE Select	ENSP00000383840.4:p.Cys17Ter
ENST00000401061.8:c.51T>A	ENSP00000383840.4:p.Cys17Ter
ENST00000616135.1:c.-121T>A	ENSP00000478859.1:n.-121T>A
NM_015506.2:c.51T>A	NP_056321.2:p.Cys17Ter
XM_005270724.3:c.51T>A	XP_005270781.1:p.Cys17Ter
XM_011541204.1:c.-172T>A	XP_011539506.1:n.-172T>A
NM_001330540.1:c.-172T>A	NP_001317469.1:n.-172T>A
XM_005270724.5:c.51T>A	XP_005270781.1:p.Cys17Ter
NM_015506.3:c.51T>A MANE Select	NP_056321.2:p.Cys17Ter
NM_001330540.2:c.-172T>A	NP_001317469.1:n.-172T>A