Canonical Allele Identifier: CA736189783

Gene: MMACHC

Linked Data

• dbSNP Id: rs1407566469
• gnomAD v4: 1-45508132-AAAAC-A
• MyVariant Identifiers: chr1:g.45973805_45973808del (hg19) ; chr1:g.45508133_45508136del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508137_45508140del , CM000663.2:g.45508137_45508140del	GRCh38
NC_000001.10:g.45973809_45973812del , CM000663.1:g.45973809_45973812del	GRCh37
NC_000001.9:g.45746396_45746399del	NCBI36
NG_013378.1:g.12954_12957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-75_277-72del MANE Select	ENSP00000383840.4:n.277-75_277-72del
ENST00000401061.8:c.277-75_277-72del	ENSP00000383840.4:n.277-75_277-72del
ENST00000616135.1:c.106-75_106-72del	ENSP00000478859.1:n.106-75_106-72del
NM_015506.2:c.277-75_277-72del	NP_056321.2:n.277-75_277-72del
XM_005270724.3:c.82-75_82-72del	XP_005270781.1:n.82-75_82-72del
XM_011541204.1:c.106-75_106-72del	XP_011539506.1:n.106-75_106-72del
NM_001330540.1:c.106-75_106-72del	NP_001317469.1:n.106-75_106-72del
XM_005270724.5:c.82-75_82-72del	XP_005270781.1:n.82-75_82-72del
NM_015506.3:c.277-75_277-72del MANE Select	NP_056321.2:n.277-75_277-72del
NM_001330540.2:c.106-75_106-72del	NP_001317469.1:n.106-75_106-72del