Canonical Allele Identifier: CA836505625
Gene: MACC1 HGNC NCBI

Linked Data

dbSNP Id: rs1330963451
gnomAD v3: 7-20164322-A-G
gnomAD v4: 7-20164322-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164322A>G , CM000669.2:g.20164322A>G GRCh38
NC_000007.13:g.20203945A>G , CM000669.1:g.20203945A>G GRCh37
NC_000007.12:g.20170470A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-75T>C MANE Select ENSP00000383185.3:n.-75T>C
ENST00000332878.8:c.-8-2452T>C ENSP00000328410.4:n.-8-2452T>C
ENST00000400331.9:c.-75T>C ENSP00000383185.3:n.-75T>C
ENST00000589011.1:c.-8-2452T>C ENSP00000466864.1:n.-8-2452T>C
NM_182762.3:c.-75T>C NP_877439.3:n.-75T>C
NM_182762.4:c.-75T>C MANE Select NP_877439.3:n.-75T>C