Canonical Allele Identifier: CA2531260489
Gene: MACC1 HGNC NCBI

Linked Data

gnomAD v4: 7-20164181-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164181C>G , CM000669.2:g.20164181C>G GRCh38
NC_000007.13:g.20203804C>G , CM000669.1:g.20203804C>G GRCh37
NC_000007.12:g.20170329C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-9+75G>C MANE Select ENSP00000383185.3:n.-9+75G>C
ENST00000332878.8:c.-8-2311G>C ENSP00000328410.4:n.-8-2311G>C
ENST00000400331.9:c.-9+75G>C ENSP00000383185.3:n.-9+75G>C
ENST00000589011.1:c.-8-2311G>C ENSP00000466864.1:n.-8-2311G>C
NM_182762.3:c.-9+75G>C NP_877439.3:n.-9+75G>C
NM_182762.4:c.-9+75G>C MANE Select NP_877439.3:n.-9+75G>C
Search 100 bp 5'
Search 100 bp 3'