Canonical Allele Identifier: CA572881826
Gene: MACC1 HGNC NCBI

Linked Data

dbSNP Id: rs1338527456
gnomAD v2: 7-20203789-A-G
gnomAD v3: 7-20164166-A-G
gnomAD v4: 7-20164166-A-G
MyVariant Identifiers: chr7:g.20203789A>G (hg19) chr7:g.20164166A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164166A>G , CM000669.2:g.20164166A>G GRCh38
NC_000007.13:g.20203789A>G , CM000669.1:g.20203789A>G GRCh37
NC_000007.12:g.20170314A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-9+90T>C MANE Select ENSP00000383185.3:n.-9+90T>C
ENST00000332878.8:c.-8-2296T>C ENSP00000328410.4:n.-8-2296T>C
ENST00000400331.9:c.-9+90T>C ENSP00000383185.3:n.-9+90T>C
ENST00000589011.1:c.-8-2296T>C ENSP00000466864.1:n.-8-2296T>C
NM_182762.3:c.-9+90T>C NP_877439.3:n.-9+90T>C
NM_182762.4:c.-9+90T>C MANE Select NP_877439.3:n.-9+90T>C
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