Canonical Allele Identifier: CA916166605

Gene: MMACHC

Linked Data

• dbSNP Id: rs1557607749
• gnomAD v4: 1-45508077-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508080del , CM000663.2:g.45508080del	GRCh38
NC_000001.10:g.45973752del , CM000663.1:g.45973752del	GRCh37
NC_000001.9:g.45746339del	NCBI36
NG_013378.1:g.12897del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-132del MANE Select	ENSP00000383840.4:n.277-132del
ENST00000401061.8:c.277-132del	ENSP00000383840.4:n.277-132del
ENST00000616135.1:c.106-132del	ENSP00000478859.1:n.106-132del
NM_015506.2:c.277-132del	NP_056321.2:n.277-132del
XM_005270724.3:c.82-132del	XP_005270781.1:n.82-132del
XM_011541204.1:c.106-132del	XP_011539506.1:n.106-132del
NM_001330540.1:c.106-132del	NP_001317469.1:n.106-132del
XM_005270724.5:c.82-132del	XP_005270781.1:n.82-132del
NM_015506.3:c.277-132del MANE Select	NP_056321.2:n.277-132del
NM_001330540.2:c.106-132del	NP_001317469.1:n.106-132del