Canonical Allele Identifier: CA2743432559

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45509037_45509059del , CM000663.2:g.45509037_45509059del	GRCh38
NC_000001.10:g.45974709_45974731del , CM000663.1:g.45974709_45974731del	GRCh37
NC_000001.9:g.45747296_45747318del	NCBI36
NG_013378.1:g.13854_13876del

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.671_693del MANE Select	ENSP00000383840.4:p.Ser224CysfsTer13
ENST00000401061.8:c.671_693del	ENSP00000383840.4:p.Ser224CysfsTer13
ENST00000616135.1:c.500_522del	ENSP00000478859.1:p.Ser167CysfsTer13
NM_015506.2:c.671_693del	NP_056321.2:p.Ser224CysfsTer13
XM_005270724.3:c.476_498del	XP_005270781.1:p.Ser159CysfsTer13
XM_011541204.1:c.500_522del	XP_011539506.1:p.Ser167CysfsTer13
NM_001330540.1:c.500_522del	NP_001317469.1:p.Ser167CysfsTer13
XM_005270724.5:c.476_498del	XP_005270781.1:p.Ser159CysfsTer13
NM_015506.3:c.671_693del MANE Select	NP_056321.2:p.Ser224CysfsTer13
NM_001330540.2:c.500_522del	NP_001317469.1:p.Ser167CysfsTer13