Canonical Allele Identifier: CA2681927899
Gene: MACC1 HGNC NCBI

Linked Data

gnomAD v4: 7-20164184-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164184A>G , CM000669.2:g.20164184A>G GRCh38
NC_000007.13:g.20203807A>G , CM000669.1:g.20203807A>G GRCh37
NC_000007.12:g.20170332A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-9+72T>C MANE Select ENSP00000383185.3:n.-9+72T>C
ENST00000332878.8:c.-8-2314T>C ENSP00000328410.4:n.-8-2314T>C
ENST00000400331.9:c.-9+72T>C ENSP00000383185.3:n.-9+72T>C
ENST00000589011.1:c.-8-2314T>C ENSP00000466864.1:n.-8-2314T>C
NM_182762.3:c.-9+72T>C NP_877439.3:n.-9+72T>C
NM_182762.4:c.-9+72T>C MANE Select NP_877439.3:n.-9+72T>C
Search 100 bp 5'
Search 100 bp 3'