Canonical Allele Identifier: CA522810659

Gene: MMACHC

Linked Data

• dbSNP Id: rs1213084018
• gnomAD v2: 1-45973238-T-G
• gnomAD v4: 1-45507566-T-G
• MyVariant Identifiers: chr1:g.45973238T>G (hg19) ; chr1:g.45507566T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507566T>G , CM000663.2:g.45507566T>G	GRCh38
NC_000001.10:g.45973238T>G , CM000663.1:g.45973238T>G	GRCh37
NC_000001.9:g.45745825T>G	NCBI36
NG_013378.1:g.12383T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.276+16T>G MANE Select	ENSP00000383840.4:n.276+16T>G
ENST00000401061.8:c.276+16T>G	ENSP00000383840.4:n.276+16T>G
ENST00000616135.1:c.105+16T>G	ENSP00000478859.1:n.105+16T>G
NM_015506.2:c.276+16T>G	NP_056321.2:n.276+16T>G
XM_005270724.3:c.82-646T>G	XP_005270781.1:n.82-646T>G
XM_011541204.1:c.105+16T>G	XP_011539506.1:n.105+16T>G
NM_001330540.1:c.105+16T>G	NP_001317469.1:n.105+16T>G
XM_005270724.5:c.82-646T>G	XP_005270781.1:n.82-646T>G
NM_015506.3:c.276+16T>G MANE Select	NP_056321.2:n.276+16T>G
NM_001330540.2:c.105+16T>G	NP_001317469.1:n.105+16T>G