Canonical Allele Identifier: CA340128397

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45966027T>A (hg19) ; chr1:g.45500355T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500355T>A , CM000663.2:g.45500355T>A	GRCh38
NC_000001.10:g.45966027T>A , CM000663.1:g.45966027T>A	GRCh37
NC_000001.9:g.45738614T>A	NCBI36
NG_013378.1:g.5172T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.23T>A MANE Select	ENSP00000383840.4:p.Leu8Gln
ENST00000401061.8:c.23T>A	ENSP00000383840.4:p.Leu8Gln
ENST00000616135.1:c.-149T>A	ENSP00000478859.1:n.-149T>A
NM_015506.2:c.23T>A	NP_056321.2:p.Leu8Gln
XM_005270724.3:c.23T>A	XP_005270781.1:p.Leu8Gln
XM_011541204.1:c.-200T>A	XP_011539506.1:n.-200T>A
NM_001330540.1:c.-200T>A	NP_001317469.1:n.-200T>A
XM_005270724.5:c.23T>A	XP_005270781.1:p.Leu8Gln
NM_015506.3:c.23T>A MANE Select	NP_056321.2:p.Leu8Gln
NM_001330540.2:c.-200T>A	NP_001317469.1:n.-200T>A