Canonical Allele Identifier: CA21829803

Gene: MMACHC

Linked Data

• dbSNP Id: rs538023671
• gnomAD v3: 1-45508982-C-G
• gnomAD v4: 1-45508982-C-G
• MyVariant Identifiers: chr1:g.45974654C>G (hg19) ; chr1:g.45508982C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508982C>G , CM000663.2:g.45508982C>G	GRCh38
NC_000001.10:g.45974654C>G , CM000663.1:g.45974654C>G	GRCh37
NC_000001.9:g.45747241C>G	NCBI36
NG_013378.1:g.13799C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.616C>G MANE Select	ENSP00000383840.4:p.Arg206Gly
ENST00000401061.8:c.616C>G	ENSP00000383840.4:p.Arg206Gly
ENST00000616135.1:c.445C>G	ENSP00000478859.1:p.Arg149Gly
NM_015506.2:c.616C>G	NP_056321.2:p.Arg206Gly
XM_005270724.3:c.421C>G	XP_005270781.1:p.Arg141Gly
XM_011541204.1:c.445C>G	XP_011539506.1:p.Arg149Gly
NM_001330540.1:c.445C>G	NP_001317469.1:p.Arg149Gly
XM_005270724.5:c.421C>G	XP_005270781.1:p.Arg141Gly
NM_015506.3:c.616C>G MANE Select	NP_056321.2:p.Arg206Gly
NM_001330540.2:c.445C>G	NP_001317469.1:p.Arg149Gly