Canonical Allele Identifier: CA827703

Gene: MMACHC

Linked Data

• dbSNP Id: rs537151830
• ExAC: 1:45973935 A / C
• gnomAD v2: 1-45973935-A-C
• gnomAD v3: 1-45508263-A-C
• gnomAD v4: 1-45508263-A-C
• MyVariant Identifiers: chr1:g.45973935A>C (hg19) ; chr1:g.45508263A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508263A>C , CM000663.2:g.45508263A>C	GRCh38
NC_000001.10:g.45973935A>C , CM000663.1:g.45973935A>C	GRCh37
NC_000001.9:g.45746522A>C	NCBI36
NG_013378.1:g.13080A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.328A>C MANE Select	ENSP00000383840.4:p.Asn110His
ENST00000401061.8:c.328A>C	ENSP00000383840.4:p.Asn110His
ENST00000616135.1:c.157A>C	ENSP00000478859.1:p.Asn53His
NM_015506.2:c.328A>C	NP_056321.2:p.Asn110His
XM_005270724.3:c.133A>C	XP_005270781.1:p.Asn45His
XM_011541204.1:c.157A>C	XP_011539506.1:p.Asn53His
NM_001330540.1:c.157A>C	NP_001317469.1:p.Asn53His
XM_005270724.5:c.133A>C	XP_005270781.1:p.Asn45His
NM_015506.3:c.328A>C MANE Select	NP_056321.2:p.Asn110His
NM_001330540.2:c.157A>C	NP_001317469.1:p.Asn53His