Canonical Allele Identifier: CA2473783537

Gene: MMACHC

Linked Data

• dbSNP Id: rs1643672704

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508595_45508596del , CM000663.2:g.45508595_45508596del	GRCh38
NC_000001.10:g.45974267_45974268del , CM000663.1:g.45974267_45974268del	GRCh37
NC_000001.9:g.45746854_45746855del	NCBI36
NG_013378.1:g.13412_13413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.430-201_430-200del MANE Select	ENSP00000383840.4:n.430-201_430-200del
ENST00000401061.8:c.430-201_430-200del	ENSP00000383840.4:n.430-201_430-200del
ENST00000616135.1:c.259-201_259-200del	ENSP00000478859.1:n.259-201_259-200del
NM_015506.2:c.430-201_430-200del	NP_056321.2:n.430-201_430-200del
XM_005270724.3:c.235-201_235-200del	XP_005270781.1:n.235-201_235-200del
XM_011541204.1:c.259-201_259-200del	XP_011539506.1:n.259-201_259-200del
NM_001330540.1:c.259-201_259-200del	NP_001317469.1:n.259-201_259-200del
XM_005270724.5:c.235-201_235-200del	XP_005270781.1:n.235-201_235-200del
NM_015506.3:c.430-201_430-200del MANE Select	NP_056321.2:n.430-201_430-200del
NM_001330540.2:c.259-201_259-200del	NP_001317469.1:n.259-201_259-200del