Canonical Allele Identifier: CA21825904
Gene: MMACHC HGNC NCBI

Linked Data

ClinVar Variation Id: 556190
ClinVar RCV Id: RCV000672157
dbSNP Id: rs574983400
gnomAD v3: 1-45500334-T-C
gnomAD v4: 1-45500334-T-C
MyVariant Identifiers: chr1:g.45966006T>C (hg19) chr1:g.45500334T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500334T>C , CM000663.2:g.45500334T>C GRCh38
NC_000001.10:g.45966006T>C , CM000663.1:g.45966006T>C GRCh37
NC_000001.9:g.45738593T>C NCBI36
NG_013378.1:g.5151T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.2T>C MANE Select ENSP00000383840.4:p.Met1Thr
ENST00000401061.8:c.2T>C ENSP00000383840.4:p.Met1Thr
NM_015506.2:c.2T>C NP_056321.2:p.Met1Thr
XM_005270724.3:c.2T>C XP_005270781.1:p.Met1Thr
XM_011541204.1:c.-221T>C XP_011539506.1:n.-221T>C
NM_001330540.1:c.-221T>C NP_001317469.1:n.-221T>C
XM_005270724.5:c.2T>C XP_005270781.1:p.Met1Thr
NM_015506.3:c.2T>C MANE Select NP_056321.2:p.Met1Thr
NM_001330540.2:c.-221T>C NP_001317469.1:n.-221T>C
Search 100 bp 5'
Search 100 bp 3'