Canonical Allele Identifier: CA417881377

Gene: MMACHC

Linked Data

• dbSNP Id: rs1643678788
• gnomAD v3: 1-45508888-G-A
• gnomAD v4: 1-45508888-G-A
• MyVariant Identifiers: chr1:g.45974560G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508888G>A , CM000663.2:g.45508888G>A	GRCh38
NC_000001.10:g.45974560G>A , CM000663.1:g.45974560G>A	GRCh37
NC_000001.9:g.45747147G>A	NCBI36
NG_013378.1:g.13705G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.522G>A MANE Select	ENSP00000383840.4:p.Leu174=
ENST00000401061.8:c.522G>A	ENSP00000383840.4:p.Leu174=
ENST00000616135.1:c.351G>A	ENSP00000478859.1:p.Leu117=
NM_015506.2:c.522G>A	NP_056321.2:p.Leu174=
XM_005270724.3:c.327G>A	XP_005270781.1:p.Leu109=
XM_011541204.1:c.351G>A	XP_011539506.1:p.Leu117=
NM_001330540.1:c.351G>A	NP_001317469.1:p.Leu117=
XM_005270724.5:c.327G>A	XP_005270781.1:p.Leu109=
NM_015506.3:c.522G>A MANE Select	NP_056321.2:p.Leu174=
NM_001330540.2:c.351G>A	NP_001317469.1:p.Leu117=