Canonical Allele Identifier: CA2473783680

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508869_45508882delinsGGATAGAGGTGCCA , CM000663.2:g.45508869_45508882delinsGGATAGAGGTGCCA	GRCh38
NC_000001.10:g.45974541_45974554delinsGGATAGAGGTGCCA , CM000663.1:g.45974541_45974554delinsGGATAGAGGTGCCA	GRCh37
NC_000001.9:g.45747128_45747141delinsGGATAGAGGTGCCA	NCBI36
NG_013378.1:g.13686_13699delinsGGATAGAGGTGCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.503_516delinsGGATAGAGGTGCCA MANE Select	ENSP00000383840.4:p.Gly168=
ENST00000401061.8:c.503_516delinsGGATAGAGGTGCCA	ENSP00000383840.4:p.Gly168=
ENST00000616135.1:c.332_345delinsGGATAGAGGTGCCA	ENSP00000478859.1:p.Gly111=
NM_015506.2:c.503_516delinsGGATAGAGGTGCCA	NP_056321.2:p.Gly168=
XM_005270724.3:c.308_321delinsGGATAGAGGTGCCA	XP_005270781.1:p.Gly103=
XM_011541204.1:c.332_345delinsGGATAGAGGTGCCA	XP_011539506.1:p.Gly111=
NM_001330540.1:c.332_345delinsGGATAGAGGTGCCA	NP_001317469.1:p.Gly111=
XM_005270724.5:c.308_321delinsGGATAGAGGTGCCA	XP_005270781.1:p.Gly103=
NM_015506.3:c.503_516delinsGGATAGAGGTGCCA MANE Select	NP_056321.2:p.Gly168=
NM_001330540.2:c.332_345delinsGGATAGAGGTGCCA	NP_001317469.1:p.Gly111=