Canonical Allele Identifier: CA1692830166
Gene: MACC1 HGNC NCBI

Linked Data

dbSNP Id: rs1782177828
gnomAD v3: 7-20164156-C-G
gnomAD v4: 7-20164156-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164156C>G , CM000669.2:g.20164156C>G GRCh38
NC_000007.13:g.20203779C>G , CM000669.1:g.20203779C>G GRCh37
NC_000007.12:g.20170304C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-9+100G>C MANE Select ENSP00000383185.3:n.-9+100G>C
ENST00000332878.8:c.-8-2286G>C ENSP00000328410.4:n.-8-2286G>C
ENST00000400331.9:c.-9+100G>C ENSP00000383185.3:n.-9+100G>C
ENST00000589011.1:c.-8-2286G>C ENSP00000466864.1:n.-8-2286G>C
NM_182762.3:c.-9+100G>C NP_877439.3:n.-9+100G>C
NM_182762.4:c.-9+100G>C MANE Select NP_877439.3:n.-9+100G>C
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