Canonical Allele Identifier: CA913075127

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45973874dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508202dup , CM000663.2:g.45508202dup	GRCh38
NC_000001.10:g.45973874dup , CM000663.1:g.45973874dup	GRCh37
NC_000001.9:g.45746461dup	NCBI36
NG_013378.1:g.13019dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-10dup MANE Select	ENSP00000383840.4:n.277-10dup
ENST00000401061.8:c.277-10dup	ENSP00000383840.4:n.277-10dup
ENST00000616135.1:c.106-10dup	ENSP00000478859.1:n.106-10dup
NM_015506.2:c.277-10dup	NP_056321.2:n.277-10dup
XM_005270724.3:c.82-10dup	XP_005270781.1:n.82-10dup
XM_011541204.1:c.106-10dup	XP_011539506.1:n.106-10dup
NM_001330540.1:c.106-10dup	NP_001317469.1:n.106-10dup
XM_005270724.5:c.82-10dup	XP_005270781.1:n.82-10dup
NM_015506.3:c.277-10dup MANE Select	NP_056321.2:n.277-10dup
NM_001330540.2:c.106-10dup	NP_001317469.1:n.106-10dup