Canonical Allele Identifier: CA827790

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 1404604
• ClinVar RCV Id: RCV001901724
• dbSNP Id: rs748747319
• ExAC: 1:45974600 G / A
• gnomAD v2: 1-45974600-G-A
• MyVariant Identifiers: chr1:g.45974600G>A (hg19) ; chr1:g.45508928G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508928G>A , CM000663.2:g.45508928G>A	GRCh38
NC_000001.10:g.45974600G>A , CM000663.1:g.45974600G>A	GRCh37
NC_000001.9:g.45747187G>A	NCBI36
NG_013378.1:g.13745G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.562G>A MANE Select	ENSP00000383840.4:p.Asp188Asn
ENST00000401061.8:c.562G>A	ENSP00000383840.4:p.Asp188Asn
ENST00000616135.1:c.391G>A	ENSP00000478859.1:p.Asp131Asn
NM_015506.2:c.562G>A	NP_056321.2:p.Asp188Asn
XM_005270724.3:c.367G>A	XP_005270781.1:p.Asp123Asn
XM_011541204.1:c.391G>A	XP_011539506.1:p.Asp131Asn
NM_001330540.1:c.391G>A	NP_001317469.1:p.Asp131Asn
XM_005270724.5:c.367G>A	XP_005270781.1:p.Asp123Asn
NM_015506.3:c.562G>A MANE Select	NP_056321.2:p.Asp188Asn
NM_001330540.2:c.391G>A	NP_001317469.1:p.Asp131Asn