Canonical Allele Identifier: CA1001254629

Gene: MMACHC

Linked Data

• dbSNP Id: rs1643514220
• gnomAD v3: 1-45500334-T-TTG
• gnomAD v4: 1-45500334-T-TTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500334_45500335insTG , CM000663.2:g.45500334_45500335insTG	GRCh38
NC_000001.10:g.45966006_45966007insTG , CM000663.1:g.45966006_45966007insTG	GRCh37
NC_000001.9:g.45738593_45738594insTG	NCBI36
NG_013378.1:g.5151_5152insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.2_3insTG MANE Select	ENSP00000383840.4:p.Met1IlefsTer9
ENST00000401061.8:c.2_3insTG	ENSP00000383840.4:p.Met1IlefsTer9
NM_015506.2:c.2_3insTG	NP_056321.2:p.Met1IlefsTer9
XM_005270724.3:c.2_3insTG	XP_005270781.1:p.Met1IlefsTer9
XM_011541204.1:c.-221_-220insTG	XP_011539506.1:n.-221_-220insTG
NM_001330540.1:c.-221_-220insTG	NP_001317469.1:n.-221_-220insTG
XM_005270724.5:c.2_3insTG	XP_005270781.1:p.Met1IlefsTer9
NM_015506.3:c.2_3insTG MANE Select	NP_056321.2:p.Met1IlefsTer9
NM_001330540.2:c.-221_-220insTG	NP_001317469.1:n.-221_-220insTG