Canonical Allele Identifier: CA1692830242
Gene: MACC1 HGNC NCBI

Linked Data

dbSNP Id: rs1782181066
gnomAD v3: 7-20164297-C-T
gnomAD v4: 7-20164297-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164297C>T , CM000669.2:g.20164297C>T GRCh38
NC_000007.13:g.20203920C>T , CM000669.1:g.20203920C>T GRCh37
NC_000007.12:g.20170445C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-50G>A MANE Select ENSP00000383185.3:n.-50G>A
ENST00000332878.8:c.-8-2427G>A ENSP00000328410.4:n.-8-2427G>A
ENST00000400331.9:c.-50G>A ENSP00000383185.3:n.-50G>A
ENST00000589011.1:c.-8-2427G>A ENSP00000466864.1:n.-8-2427G>A
NM_182762.3:c.-50G>A NP_877439.3:n.-50G>A
NM_182762.4:c.-50G>A MANE Select NP_877439.3:n.-50G>A
Search 100 bp 5'
Search 100 bp 3'