Canonical Allele Identifier: CA1001243967

Gene: MMACHC

Linked Data

• dbSNP Id: rs1643671001
• gnomAD v3: 1-45508478-A-T
• gnomAD v4: 1-45508478-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508478A>T , CM000663.2:g.45508478A>T	GRCh38
NC_000001.10:g.45974150A>T , CM000663.1:g.45974150A>T	GRCh37
NC_000001.9:g.45746737A>T	NCBI36
NG_013378.1:g.13295A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.429+114A>T MANE Select	ENSP00000383840.4:n.429+114A>T
ENST00000401061.8:c.429+114A>T	ENSP00000383840.4:n.429+114A>T
ENST00000616135.1:c.258+114A>T	ENSP00000478859.1:n.258+114A>T
NM_015506.2:c.429+114A>T	NP_056321.2:n.429+114A>T
XM_005270724.3:c.234+114A>T	XP_005270781.1:n.234+114A>T
XM_011541204.1:c.258+114A>T	XP_011539506.1:n.258+114A>T
NM_001330540.1:c.258+114A>T	NP_001317469.1:n.258+114A>T
XM_005270724.5:c.234+114A>T	XP_005270781.1:n.234+114A>T
NM_015506.3:c.429+114A>T MANE Select	NP_056321.2:n.429+114A>T
NM_001330540.2:c.258+114A>T	NP_001317469.1:n.258+114A>T