Canonical Allele Identifier: CA312739

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 203833
• ClinVar RCV Id: RCV000186033 ; RCV000641155 ; RCV003407684
• dbSNP Id: rs796051998
• ExAC: 1:45973988 TTAC / T
• gnomAD v2: 1-45973988-TTAC-T
• gnomAD v3: 1-45508316-TTAC-T
• gnomAD v4: 1-45508316-TTAC-T
• MyVariant Identifiers: chr1:g.45973995_45973997del (hg19) ; chr1:g.45973989_45973991del (hg19) ; chr1:g.45973995_45973997delTAC (hg19) ; chr1:g.45508323_45508325del (hg38) ; chr1:g.45508317_45508319del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508323_45508325del , CM000663.2:g.45508323_45508325del	GRCh38
NC_000001.10:g.45973995_45973997del , CM000663.1:g.45973995_45973997del	GRCh37
NC_000001.9:g.45746582_45746584del	NCBI36
NG_013378.1:g.13140_13142del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.388_390del MANE Select	ENSP00000383840.4:p.Tyr130del
ENST00000401061.8:c.388_390del	ENSP00000383840.4:p.Tyr130del
ENST00000616135.1:c.217_219del	ENSP00000478859.1:p.Tyr73del
NM_015506.2:c.388_390del	NP_056321.2:p.Tyr130del
XM_005270724.3:c.193_195del	XP_005270781.1:p.Tyr65del
XM_011541204.1:c.217_219del	XP_011539506.1:p.Tyr73del
NM_001330540.1:c.217_219del	NP_001317469.1:p.Tyr73del
XM_005270724.5:c.193_195del	XP_005270781.1:p.Tyr65del
NM_015506.3:c.388_390del MANE Select	NP_056321.2:p.Tyr130del
NM_001330540.2:c.217_219del	NP_001317469.1:p.Tyr73del