Canonical Allele Identifier: CA340133432

Gene: MMACHC

Linked Data

• gnomAD v4: 1-45508922-A-G
• MyVariant Identifiers: chr1:g.45974594A>G (hg19) ; chr1:g.45508922A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508922A>G , CM000663.2:g.45508922A>G	GRCh38
NC_000001.10:g.45974594A>G , CM000663.1:g.45974594A>G	GRCh37
NC_000001.9:g.45747181A>G	NCBI36
NG_013378.1:g.13739A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.556A>G MANE Select	ENSP00000383840.4:p.Arg186Gly
ENST00000401061.8:c.556A>G	ENSP00000383840.4:p.Arg186Gly
ENST00000616135.1:c.385A>G	ENSP00000478859.1:p.Arg129Gly
NM_015506.2:c.556A>G	NP_056321.2:p.Arg186Gly
XM_005270724.3:c.361A>G	XP_005270781.1:p.Arg121Gly
XM_011541204.1:c.385A>G	XP_011539506.1:p.Arg129Gly
NM_001330540.1:c.385A>G	NP_001317469.1:p.Arg129Gly
XM_005270724.5:c.361A>G	XP_005270781.1:p.Arg121Gly
NM_015506.3:c.556A>G MANE Select	NP_056321.2:p.Arg186Gly
NM_001330540.2:c.385A>G	NP_001317469.1:p.Arg129Gly