Canonical Allele Identifier: CA2695198017

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 2676625
• ClinVar RCV Id: RCV003470149

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508853del , CM000663.2:g.45508853del	GRCh38
NC_000001.10:g.45974525del , CM000663.1:g.45974525del	GRCh37
NC_000001.9:g.45747112del	NCBI36
NG_013378.1:g.13670del

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.487del MANE Select	ENSP00000383840.4:p.Val163Ter
ENST00000401061.8:c.487del	ENSP00000383840.4:p.Val163Ter
ENST00000616135.1:c.316del	ENSP00000478859.1:p.Val106Ter
NM_015506.2:c.487del	NP_056321.2:p.Val163Ter
XM_005270724.3:c.292del	XP_005270781.1:p.Val98Ter
XM_011541204.1:c.316del	XP_011539506.1:p.Val106Ter
NM_001330540.1:c.316del	NP_001317469.1:p.Val106Ter
XM_005270724.5:c.292del	XP_005270781.1:p.Val98Ter
NM_015506.3:c.487del MANE Select	NP_056321.2:p.Val163Ter
NM_001330540.2:c.316del	NP_001317469.1:p.Val106Ter