Canonical Allele Identifier: CA340132547

Gene: MMACHC

Linked Data

• gnomAD v4: 1-45508362-C-G
• MyVariant Identifiers: chr1:g.45974034C>G (hg19) ; chr1:g.45508362C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508362C>G , CM000663.2:g.45508362C>G	GRCh38
NC_000001.10:g.45974034C>G , CM000663.1:g.45974034C>G	GRCh37
NC_000001.9:g.45746621C>G	NCBI36
NG_013378.1:g.13179C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.427C>G MANE Select	ENSP00000383840.4:p.Gln143Glu
ENST00000401061.8:c.427C>G	ENSP00000383840.4:p.Gln143Glu
ENST00000616135.1:c.256C>G	ENSP00000478859.1:p.Gln86Glu
NM_015506.2:c.427C>G	NP_056321.2:p.Gln143Glu
XM_005270724.3:c.232C>G	XP_005270781.1:p.Gln78Glu
XM_011541204.1:c.256C>G	XP_011539506.1:p.Gln86Glu
NM_001330540.1:c.256C>G	NP_001317469.1:p.Gln86Glu
XM_005270724.5:c.232C>G	XP_005270781.1:p.Gln78Glu
NM_015506.3:c.427C>G MANE Select	NP_056321.2:p.Gln143Glu
NM_001330540.2:c.256C>G	NP_001317469.1:p.Gln86Glu