Canonical Allele Identifier: CA736189434

Gene: MMACHC

Linked Data

• dbSNP Id: rs1287520769
• gnomAD v3: 1-45507604-C-T
• gnomAD v4: 1-45507604-C-T
• MyVariant Identifiers: chr1:g.45973276C>T (hg19) ; chr1:g.45507604C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507604C>T , CM000663.2:g.45507604C>T	GRCh38
NC_000001.10:g.45973276C>T , CM000663.1:g.45973276C>T	GRCh37
NC_000001.9:g.45745863C>T	NCBI36
NG_013378.1:g.12421C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.276+54C>T MANE Select	ENSP00000383840.4:n.276+54C>T
ENST00000401061.8:c.276+54C>T	ENSP00000383840.4:n.276+54C>T
ENST00000616135.1:c.105+54C>T	ENSP00000478859.1:n.105+54C>T
NM_015506.2:c.276+54C>T	NP_056321.2:n.276+54C>T
XM_005270724.3:c.82-608C>T	XP_005270781.1:n.82-608C>T
XM_011541204.1:c.105+54C>T	XP_011539506.1:n.105+54C>T
NM_001330540.1:c.105+54C>T	NP_001317469.1:n.105+54C>T
XM_005270724.5:c.82-608C>T	XP_005270781.1:n.82-608C>T
NM_015506.3:c.276+54C>T MANE Select	NP_056321.2:n.276+54C>T
NM_001330540.2:c.105+54C>T	NP_001317469.1:n.105+54C>T