Canonical Allele Identifier: CA522810651

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 1377767
• ClinVar RCV Id: RCV001912327
• dbSNP Id: rs1557607881
• gnomAD v2: 1-45973917-GACT-G
• gnomAD v4: 1-45508245-GACT-G
• MyVariant Identifiers: chr1:g.45973918_45973920del (hg19) ; chr1:g.45508246_45508248del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508248_45508250del , CM000663.2:g.45508248_45508250del	GRCh38
NC_000001.10:g.45973920_45973922del , CM000663.1:g.45973920_45973922del	GRCh37
NC_000001.9:g.45746507_45746509del	NCBI36
NG_013378.1:g.13065_13067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.313_315del MANE Select	ENSP00000383840.4:p.Tyr105del
ENST00000401061.8:c.313_315del	ENSP00000383840.4:p.Tyr105del
ENST00000616135.1:c.142_144del	ENSP00000478859.1:p.Tyr48del
NM_015506.2:c.313_315del	NP_056321.2:p.Tyr105del
XM_005270724.3:c.118_120del	XP_005270781.1:p.Tyr40del
XM_011541204.1:c.142_144del	XP_011539506.1:p.Tyr48del
NM_001330540.1:c.142_144del	NP_001317469.1:p.Tyr48del
XM_005270724.5:c.118_120del	XP_005270781.1:p.Tyr40del
NM_015506.3:c.313_315del MANE Select	NP_056321.2:p.Tyr105del
NM_001330540.2:c.142_144del	NP_001317469.1:p.Tyr48del