Canonical Allele Identifier: CA2473783265
Gene: MMACHC HGNC NCBI

Linked Data

dbSNP Id: rs1168018726
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508016G>A , CM000663.2:g.45508016G>A GRCh38
NC_000001.10:g.45973688G>A , CM000663.1:g.45973688G>A GRCh37
NC_000001.9:g.45746275G>A NCBI36
NG_013378.1:g.12833G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.277-196G>A MANE Select ENSP00000383840.4:n.277-196G>A
ENST00000401061.8:c.277-196G>A ENSP00000383840.4:n.277-196G>A
ENST00000616135.1:c.106-196G>A ENSP00000478859.1:n.106-196G>A
NM_015506.2:c.277-196G>A NP_056321.2:n.277-196G>A
XM_005270724.3:c.82-196G>A XP_005270781.1:n.82-196G>A
XM_011541204.1:c.106-196G>A XP_011539506.1:n.106-196G>A
NM_001330540.1:c.106-196G>A NP_001317469.1:n.106-196G>A
XM_005270724.5:c.82-196G>A XP_005270781.1:n.82-196G>A
NM_015506.3:c.277-196G>A MANE Select NP_056321.2:n.277-196G>A
NM_001330540.2:c.106-196G>A NP_001317469.1:n.106-196G>A
Search 100 bp 5'
Search 100 bp 3'