Canonical Allele Identifier: CA285689

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 95702
• ClinVar RCV Id: RCV000081738 ; RCV000264092 ; RCV000589848 ; RCV001513687
• dbSNP Id: rs2275276
• ExAC: 1:45973928 G / A
• gnomAD v2: 1-45973928-G-A
• gnomAD v3: 1-45508256-G-A
• gnomAD v4: 1-45508256-G-A
• MyVariant Identifiers: chr1:g.45973928G>A (hg19) ; chr1:g.45508256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508256G>A , CM000663.2:g.45508256G>A	GRCh38
NC_000001.10:g.45973928G>A , CM000663.1:g.45973928G>A	GRCh37
NC_000001.9:g.45746515G>A	NCBI36
NG_013378.1:g.13073G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.321G>A MANE Select	ENSP00000383840.4:p.Val107=
ENST00000401061.8:c.321G>A	ENSP00000383840.4:p.Val107=
ENST00000616135.1:c.150G>A	ENSP00000478859.1:p.Val50=
NM_015506.2:c.321G>A	NP_056321.2:p.Val107=
XM_005270724.3:c.126G>A	XP_005270781.1:p.Val42=
XM_011541204.1:c.150G>A	XP_011539506.1:p.Val50=
NM_001330540.1:c.150G>A	NP_001317469.1:p.Val50=
XM_005270724.5:c.126G>A	XP_005270781.1:p.Val42=
NM_015506.3:c.321G>A MANE Select	NP_056321.2:p.Val107=
NM_001330540.2:c.150G>A	NP_001317469.1:p.Val50=