Canonical Allele Identifier: CA21829185

Gene: MMACHC

Linked Data

• dbSNP Id: rs897109748
• MyVariant Identifiers: chr1:g.45973707T>A (hg19) ; chr1:g.45508035T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508035T>A , CM000663.2:g.45508035T>A	GRCh38
NC_000001.10:g.45973707T>A , CM000663.1:g.45973707T>A	GRCh37
NC_000001.9:g.45746294T>A	NCBI36
NG_013378.1:g.12852T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-177T>A MANE Select	ENSP00000383840.4:n.277-177T>A
ENST00000401061.8:c.277-177T>A	ENSP00000383840.4:n.277-177T>A
ENST00000616135.1:c.106-177T>A	ENSP00000478859.1:n.106-177T>A
NM_015506.2:c.277-177T>A	NP_056321.2:n.277-177T>A
XM_005270724.3:c.82-177T>A	XP_005270781.1:n.82-177T>A
XM_011541204.1:c.106-177T>A	XP_011539506.1:n.106-177T>A
NM_001330540.1:c.106-177T>A	NP_001317469.1:n.106-177T>A
XM_005270724.5:c.82-177T>A	XP_005270781.1:n.82-177T>A
NM_015506.3:c.277-177T>A MANE Select	NP_056321.2:n.277-177T>A
NM_001330540.2:c.106-177T>A	NP_001317469.1:n.106-177T>A