Canonical Allele Identifier: CA1099112599
Gene: MACC1 HGNC NCBI

Linked Data

dbSNP Id: rs548491196
gnomAD v3: 7-20164205-G-T
gnomAD v4: 7-20164205-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164205G>T , CM000669.2:g.20164205G>T GRCh38
NC_000007.13:g.20203828G>T , CM000669.1:g.20203828G>T GRCh37
NC_000007.12:g.20170353G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-9+51C>A MANE Select ENSP00000383185.3:n.-9+51C>A
ENST00000332878.8:c.-8-2335C>A ENSP00000328410.4:n.-8-2335C>A
ENST00000400331.9:c.-9+51C>A ENSP00000383185.3:n.-9+51C>A
ENST00000589011.1:c.-8-2335C>A ENSP00000466864.1:n.-8-2335C>A
NM_182762.3:c.-9+51C>A NP_877439.3:n.-9+51C>A
NM_182762.4:c.-9+51C>A MANE Select NP_877439.3:n.-9+51C>A
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