Canonical Allele Identifier: CA2681928015
Gene: MACC1 HGNC NCBI

Linked Data

gnomAD v4: 7-20164447-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164447A>G , CM000669.2:g.20164447A>G GRCh38
NC_000007.13:g.20204070A>G , CM000669.1:g.20204070A>G GRCh37
NC_000007.12:g.20170595A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-152-48T>C MANE Select ENSP00000383185.3:n.-152-48T>C
ENST00000332878.8:c.-8-2577T>C ENSP00000328410.4:n.-8-2577T>C
ENST00000400331.9:c.-152-48T>C ENSP00000383185.3:n.-152-48T>C
ENST00000471019.1:n.274-48T>C
ENST00000589011.1:c.-8-2577T>C ENSP00000466864.1:n.-8-2577T>C
NM_182762.3:c.-152-48T>C NP_877439.3:n.-152-48T>C
NM_182762.4:c.-152-48T>C MANE Select NP_877439.3:n.-152-48T>C
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