Canonical Allele Identifier: CA913075179

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45974609_45974610del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508937_45508938del , CM000663.2:g.45508937_45508938del	GRCh38
NC_000001.10:g.45974609_45974610del , CM000663.1:g.45974609_45974610del	GRCh37
NC_000001.9:g.45747196_45747197del	NCBI36
NG_013378.1:g.13754_13755del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.571_572del MANE Select	ENSP00000383840.4:p.Ala191ProfsTer11
ENST00000401061.8:c.571_572del	ENSP00000383840.4:p.Ala191ProfsTer11
ENST00000616135.1:c.400_401del	ENSP00000478859.1:p.Ala134ProfsTer11
NM_015506.2:c.571_572del	NP_056321.2:p.Ala191ProfsTer11
XM_005270724.3:c.376_377del	XP_005270781.1:p.Ala126ProfsTer11
XM_011541204.1:c.400_401del	XP_011539506.1:p.Ala134ProfsTer11
NM_001330540.1:c.400_401del	NP_001317469.1:p.Ala134ProfsTer11
XM_005270724.5:c.376_377del	XP_005270781.1:p.Ala126ProfsTer11
NM_015506.3:c.571_572del MANE Select	NP_056321.2:p.Ala191ProfsTer11
NM_001330540.2:c.400_401del	NP_001317469.1:p.Ala134ProfsTer11