Canonical Allele Identifier: CA21829562

Gene: MMACHC

Linked Data

• dbSNP Id: rs1020902877
• gnomAD v2: 1-45974290-GC-G
• gnomAD v3: 1-45508618-GC-G
• gnomAD v4: 1-45508618-GC-G
• MyVariant Identifiers: chr1:g.45974291del (hg19) ; chr1:g.45508619del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508621del , CM000663.2:g.45508621del	GRCh38
NC_000001.10:g.45974293del , CM000663.1:g.45974293del	GRCh37
NC_000001.9:g.45746880del	NCBI36
NG_013378.1:g.13438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.430-175del MANE Select	ENSP00000383840.4:n.430-175del
ENST00000401061.8:c.430-175del	ENSP00000383840.4:n.430-175del
ENST00000616135.1:c.259-175del	ENSP00000478859.1:n.259-175del
NM_015506.2:c.430-175del	NP_056321.2:n.430-175del
XM_005270724.3:c.235-175del	XP_005270781.1:n.235-175del
XM_011541204.1:c.259-175del	XP_011539506.1:n.259-175del
NM_001330540.1:c.259-175del	NP_001317469.1:n.259-175del
XM_005270724.5:c.235-175del	XP_005270781.1:n.235-175del
NM_015506.3:c.430-175del MANE Select	NP_056321.2:n.430-175del
NM_001330540.2:c.259-175del	NP_001317469.1:n.259-175del