Canonical Allele Identifier: CA736189430

Gene: MMACHC

Linked Data

• dbSNP Id: rs1326728738
• gnomAD v3: 1-45507594-G-A
• gnomAD v4: 1-45507594-G-A
• MyVariant Identifiers: chr1:g.45973266G>A (hg19) ; chr1:g.45507594G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507594G>A , CM000663.2:g.45507594G>A	GRCh38
NC_000001.10:g.45973266G>A , CM000663.1:g.45973266G>A	GRCh37
NC_000001.9:g.45745853G>A	NCBI36
NG_013378.1:g.12411G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.276+44G>A MANE Select	ENSP00000383840.4:n.276+44G>A
ENST00000401061.8:c.276+44G>A	ENSP00000383840.4:n.276+44G>A
ENST00000616135.1:c.105+44G>A	ENSP00000478859.1:n.105+44G>A
NM_015506.2:c.276+44G>A	NP_056321.2:n.276+44G>A
XM_005270724.3:c.82-618G>A	XP_005270781.1:n.82-618G>A
XM_011541204.1:c.105+44G>A	XP_011539506.1:n.105+44G>A
NM_001330540.1:c.105+44G>A	NP_001317469.1:n.105+44G>A
XM_005270724.5:c.82-618G>A	XP_005270781.1:n.82-618G>A
NM_015506.3:c.276+44G>A MANE Select	NP_056321.2:n.276+44G>A
NM_001330540.2:c.105+44G>A	NP_001317469.1:n.105+44G>A