Canonical Allele Identifier: CA417703406
Gene: MMACHC HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.45966013G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500341G>C , CM000663.2:g.45500341G>C GRCh38
NC_000001.10:g.45966013G>C , CM000663.1:g.45966013G>C GRCh37
NC_000001.9:g.45738600G>C NCBI36
NG_013378.1:g.5158G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.9G>C MANE Select ENSP00000383840.4:p.Pro3=
ENST00000401061.8:c.9G>C ENSP00000383840.4:p.Pro3=
ENST00000616135.1:c.-163G>C ENSP00000478859.1:n.-163G>C
NM_015506.2:c.9G>C NP_056321.2:p.Pro3=
XM_005270724.3:c.9G>C XP_005270781.1:p.Pro3=
XM_011541204.1:c.-214G>C XP_011539506.1:n.-214G>C
NM_001330540.1:c.-214G>C NP_001317469.1:n.-214G>C
XM_005270724.5:c.9G>C XP_005270781.1:p.Pro3=
NM_015506.3:c.9G>C MANE Select NP_056321.2:p.Pro3=
NM_001330540.2:c.-214G>C NP_001317469.1:n.-214G>C