Canonical Allele Identifier: CA572881827
Gene: MACC1 HGNC NCBI

Linked Data

gnomAD v2: 7-20203801-T-C
gnomAD v4: 7-20164178-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164178T>C , CM000669.2:g.20164178T>C GRCh38
NC_000007.13:g.20203801T>C , CM000669.1:g.20203801T>C GRCh37
NC_000007.12:g.20170326T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-9+78A>G MANE Select ENSP00000383185.3:n.-9+78A>G
ENST00000332878.8:c.-8-2308A>G ENSP00000328410.4:n.-8-2308A>G
ENST00000400331.9:c.-9+78A>G ENSP00000383185.3:n.-9+78A>G
ENST00000589011.1:c.-8-2308A>G ENSP00000466864.1:n.-8-2308A>G
NM_182762.3:c.-9+78A>G NP_877439.3:n.-9+78A>G
NM_182762.4:c.-9+78A>G MANE Select NP_877439.3:n.-9+78A>G