Canonical Allele Identifier: CA2695198020

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 2676631
• ClinVar RCV Id: RCV003470154

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508990del , CM000663.2:g.45508990del	GRCh38
NC_000001.10:g.45974662del , CM000663.1:g.45974662del	GRCh37
NC_000001.9:g.45747249del	NCBI36
NG_013378.1:g.13807del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.624del MANE Select	ENSP00000383840.4:p.Val209Ter
ENST00000401061.8:c.624del	ENSP00000383840.4:p.Val209Ter
ENST00000616135.1:c.453del	ENSP00000478859.1:p.Val152Ter
NM_015506.2:c.624del	NP_056321.2:p.Val209Ter
XM_005270724.3:c.429del	XP_005270781.1:p.Val144Ter
XM_011541204.1:c.453del	XP_011539506.1:p.Val152Ter
NM_001330540.1:c.453del	NP_001317469.1:p.Val152Ter
XM_005270724.5:c.429del	XP_005270781.1:p.Val144Ter
NM_015506.3:c.624del MANE Select	NP_056321.2:p.Val209Ter
NM_001330540.2:c.453del	NP_001317469.1:p.Val152Ter