Canonical Allele Identifier: CA340132203

Gene: MMACHC

Linked Data

• dbSNP Id: rs781133955
• gnomAD v3: 1-45508264-A-C
• gnomAD v4: 1-45508264-A-C
• MyVariant Identifiers: chr1:g.45973936A>C (hg19) ; chr1:g.45508264A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508264A>C , CM000663.2:g.45508264A>C	GRCh38
NC_000001.10:g.45973936A>C , CM000663.1:g.45973936A>C	GRCh37
NC_000001.9:g.45746523A>C	NCBI36
NG_013378.1:g.13081A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.329A>C MANE Select	ENSP00000383840.4:p.Asn110Thr
ENST00000401061.8:c.329A>C	ENSP00000383840.4:p.Asn110Thr
ENST00000616135.1:c.158A>C	ENSP00000478859.1:p.Asn53Thr
NM_015506.2:c.329A>C	NP_056321.2:p.Asn110Thr
XM_005270724.3:c.134A>C	XP_005270781.1:p.Asn45Thr
XM_011541204.1:c.158A>C	XP_011539506.1:p.Asn53Thr
NM_001330540.1:c.158A>C	NP_001317469.1:p.Asn53Thr
XM_005270724.5:c.134A>C	XP_005270781.1:p.Asn45Thr
NM_015506.3:c.329A>C MANE Select	NP_056321.2:p.Asn110Thr
NM_001330540.2:c.158A>C	NP_001317469.1:p.Asn53Thr