Canonical Allele Identifier: CA340131974

Gene: MMACHC

Linked Data

• dbSNP Id: rs952771687
• gnomAD v2: 1-45973178-C-G
• gnomAD v3: 1-45507506-C-G
• gnomAD v4: 1-45507506-C-G
• MyVariant Identifiers: chr1:g.45973178C>G (hg19) ; chr1:g.45507506C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507506C>G , CM000663.2:g.45507506C>G	GRCh38
NC_000001.10:g.45973178C>G , CM000663.1:g.45973178C>G	GRCh37
NC_000001.9:g.45745765C>G	NCBI36
NG_013378.1:g.12323C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.232C>G MANE Select	ENSP00000383840.4:p.Pro78Ala
ENST00000401061.8:c.232C>G	ENSP00000383840.4:p.Pro78Ala
ENST00000616135.1:c.61C>G	ENSP00000478859.1:p.Pro21Ala
NM_015506.2:c.232C>G	NP_056321.2:p.Pro78Ala
XM_005270724.3:c.82-706C>G	XP_005270781.1:n.82-706C>G
XM_011541204.1:c.61C>G	XP_011539506.1:p.Pro21Ala
NM_001330540.1:c.61C>G	NP_001317469.1:p.Pro21Ala
XM_005270724.5:c.82-706C>G	XP_005270781.1:n.82-706C>G
NM_015506.3:c.232C>G MANE Select	NP_056321.2:p.Pro78Ala
NM_001330540.2:c.61C>G	NP_001317469.1:p.Pro21Ala