Canonical Allele Identifier: CA522810635
Gene: MMACHC HGNC NCBI

Linked Data

dbSNP Id: rs1381951367
gnomAD v2: 1-45974436-C-A
gnomAD v4: 1-45508764-C-A
MyVariant Identifiers: chr1:g.45974436C>A (hg19) chr1:g.45508764C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508764C>A , CM000663.2:g.45508764C>A GRCh38
NC_000001.10:g.45974436C>A , CM000663.1:g.45974436C>A GRCh37
NC_000001.9:g.45747023C>A NCBI36
NG_013378.1:g.13581C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000401061.9:c.430-32C>A MANE Select ENSP00000383840.4:n.430-32C>A
ENST00000401061.8:c.430-32C>A ENSP00000383840.4:n.430-32C>A
ENST00000616135.1:c.259-32C>A ENSP00000478859.1:n.259-32C>A
NM_015506.2:c.430-32C>A NP_056321.2:n.430-32C>A
XM_005270724.3:c.235-32C>A XP_005270781.1:n.235-32C>A
XM_011541204.1:c.259-32C>A XP_011539506.1:n.259-32C>A
NM_001330540.1:c.259-32C>A NP_001317469.1:n.259-32C>A
XM_005270724.5:c.235-32C>A XP_005270781.1:n.235-32C>A
NM_015506.3:c.430-32C>A MANE Select NP_056321.2:n.430-32C>A
NM_001330540.2:c.259-32C>A NP_001317469.1:n.259-32C>A
Search 100 bp 5'
Search 100 bp 3'