Canonical Allele Identifier: CA1001244037

Gene: MMACHC

Linked Data

• dbSNP Id: rs1643673746
• gnomAD v3: 1-45508643-T-TC
• gnomAD v4: 1-45508643-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508643_45508644insC , CM000663.2:g.45508643_45508644insC	GRCh38
NC_000001.10:g.45974315_45974316insC , CM000663.1:g.45974315_45974316insC	GRCh37
NC_000001.9:g.45746902_45746903insC	NCBI36
NG_013378.1:g.13460_13461insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.430-153_430-152insC MANE Select	ENSP00000383840.4:n.430-153_430-152insC
ENST00000401061.8:c.430-153_430-152insC	ENSP00000383840.4:n.430-153_430-152insC
ENST00000616135.1:c.259-153_259-152insC	ENSP00000478859.1:n.259-153_259-152insC
NM_015506.2:c.430-153_430-152insC	NP_056321.2:n.430-153_430-152insC
XM_005270724.3:c.235-153_235-152insC	XP_005270781.1:n.235-153_235-152insC
XM_011541204.1:c.259-153_259-152insC	XP_011539506.1:n.259-153_259-152insC
NM_001330540.1:c.259-153_259-152insC	NP_001317469.1:n.259-153_259-152insC
XM_005270724.5:c.235-153_235-152insC	XP_005270781.1:n.235-153_235-152insC
NM_015506.3:c.430-153_430-152insC MANE Select	NP_056321.2:n.430-153_430-152insC
NM_001330540.2:c.259-153_259-152insC	NP_001317469.1:n.259-153_259-152insC