Canonical Allele Identifier: CA1001243631

Gene: MMACHC

Linked Data

• dbSNP Id: rs1643665238
• gnomAD v3: 1-45508262-C-CTGACT
• gnomAD v4: 1-45508262-C-CTGACT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508262_45508263insTGACT , CM000663.2:g.45508262_45508263insTGACT	GRCh38
NC_000001.10:g.45973934_45973935insTGACT , CM000663.1:g.45973934_45973935insTGACT	GRCh37
NC_000001.9:g.45746521_45746522insTGACT	NCBI36
NG_013378.1:g.13079_13080insTGACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.327_328insTGACT MANE Select	ENSP00000383840.4:p.Asn110Ter
ENST00000401061.8:c.327_328insTGACT	ENSP00000383840.4:p.Asn110Ter
ENST00000616135.1:c.156_157insTGACT	ENSP00000478859.1:p.Asn53Ter
NM_015506.2:c.327_328insTGACT	NP_056321.2:p.Asn110Ter
XM_005270724.3:c.132_133insTGACT	XP_005270781.1:p.Asn45Ter
XM_011541204.1:c.156_157insTGACT	XP_011539506.1:p.Asn53Ter
NM_001330540.1:c.156_157insTGACT	NP_001317469.1:p.Asn53Ter
XM_005270724.5:c.132_133insTGACT	XP_005270781.1:p.Asn45Ter
NM_015506.3:c.327_328insTGACT MANE Select	NP_056321.2:p.Asn110Ter
NM_001330540.2:c.156_157insTGACT	NP_001317469.1:p.Asn53Ter