Canonical Allele Identifier: CA090937

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 1421
• ClinVar RCV Id: RCV000001486 ; RCV000081737 ; RCV000308836 ; RCV000507720 ; RCV000585799 ; RCV001273215 ; RCV001328208 ; RCV002251853 ; RCV003421892 ; RCV004018537
• dbSNP Id: rs398124292
• ExAC: 1:45973216 T / TA
• gnomAD v2: 1-45973216-T-TA
• gnomAD v3: 1-45507544-T-TA
• gnomAD v4: 1-45507544-T-TA
• MyVariant Identifiers: chr1:g.45973217dup (hg19) ; chr1:g.45973217dupA (hg19) ; chr1:g.45973217_45973218insA (hg19) ; chr1:g.45973216_45973217insA (hg19) ; chr1:g.45507545dupA (hg38) ; chr1:g.45507545_45507546insA (hg38) ; chr1:g.45507544_45507545insA (hg38)
• PubMed: PMID:16311595 ; PMID:16714133 ; PMID:17768669 ; PMID:17853453 ; PMID:18164228 ; PMID:19370762 ; PMID:19760748 ; PMID:20549364 ; PMID:20610126 ; PMID:20631720 ; PMID:23757202 ; PMID:23837176 ; PMID:24126030 ; PMID:24599607 ; PMID:25687216 ; PMID:29302025

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507545dup , CM000663.2:g.45507545dup	GRCh38
NC_000001.10:g.45973217dup , CM000663.1:g.45973217dup	GRCh37
NC_000001.9:g.45745804dup	NCBI36
NG_013378.1:g.12362dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.271dup MANE Select	ENSP00000383840.4:p.Arg91LysfsTer14
ENST00000401061.8:c.271dup	ENSP00000383840.4:p.Arg91LysfsTer14
ENST00000616135.1:c.100dup	ENSP00000478859.1:p.Arg34LysfsTer14
NM_015506.2:c.271dup	NP_056321.2:p.Arg91LysfsTer14
XM_005270724.3:c.82-667dup	XP_005270781.1:n.82-667dup
XM_011541204.1:c.100dup	XP_011539506.1:p.Arg34LysfsTer14
NM_001330540.1:c.100dup	NP_001317469.1:p.Arg34LysfsTer14
XM_005270724.5:c.82-667dup	XP_005270781.1:n.82-667dup
NM_015506.3:c.271dup MANE Select	NP_056321.2:p.Arg91LysfsTer14
NM_001330540.2:c.100dup	NP_001317469.1:p.Arg34LysfsTer14