Canonical Allele Identifier: CA1001254601
Gene: MMACHC HGNC NCBI

Linked Data

dbSNP Id: rs1643513718
gnomAD v3: 1-45500319-G-A
gnomAD v4: 1-45500319-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45500319G>A , CM000663.2:g.45500319G>A GRCh38
NC_000001.10:g.45965991G>A , CM000663.1:g.45965991G>A GRCh37
NC_000001.9:g.45738578G>A NCBI36
NG_013378.1:g.5136G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.-14G>A MANE Select ENSP00000383840.4:n.-14G>A
ENST00000401061.8:c.-14G>A ENSP00000383840.4:n.-14G>A
NM_015506.2:c.-14G>A NP_056321.2:n.-14G>A
XM_005270724.3:c.-14G>A XP_005270781.1:n.-14G>A
NM_001330540.1:c.-236G>A NP_001317469.1:n.-236G>A
XM_005270724.5:c.-14G>A XP_005270781.1:n.-14G>A
NM_015506.3:c.-14G>A MANE Select NP_056321.2:n.-14G>A
NM_001330540.2:c.-236G>A NP_001317469.1:n.-236G>A
Search 100 bp 5'
Search 100 bp 3'