Canonical Allele Identifier: CA645523901
Gene: MMACHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508368A>G , CM000663.2:g.45508368A>G GRCh38
NC_000001.10:g.45974040A>G , CM000663.1:g.45974040A>G GRCh37
NC_000001.9:g.45746627A>G NCBI36
NG_013378.1:g.13185A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000401061.9:c.429+4A>G MANE Select ENSP00000383840.4:n.429+4A>G
ENST00000401061.8:c.429+4A>G ENSP00000383840.4:n.429+4A>G
ENST00000616135.1:c.258+4A>G ENSP00000478859.1:n.258+4A>G
NM_015506.2:c.429+4A>G NP_056321.2:n.429+4A>G
XM_005270724.3:c.234+4A>G XP_005270781.1:n.234+4A>G
XM_011541204.1:c.258+4A>G XP_011539506.1:n.258+4A>G
NM_001330540.1:c.258+4A>G NP_001317469.1:n.258+4A>G
XM_005270724.5:c.234+4A>G XP_005270781.1:n.234+4A>G
NM_015506.3:c.429+4A>G MANE Select NP_056321.2:n.429+4A>G
NM_001330540.2:c.258+4A>G NP_001317469.1:n.258+4A>G