Canonical Allele Identifier: CA572881841
Gene: MACC1 HGNC NCBI

Linked Data

dbSNP Id: rs1287042210
gnomAD v2: 7-20204050-C-T
gnomAD v3: 7-20164427-C-T
gnomAD v4: 7-20164427-C-T
MyVariant Identifiers: chr7:g.20204050C>T (hg19) chr7:g.20164427C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164427C>T , CM000669.2:g.20164427C>T GRCh38
NC_000007.13:g.20204050C>T , CM000669.1:g.20204050C>T GRCh37
NC_000007.12:g.20170575C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-152-28G>A MANE Select ENSP00000383185.3:n.-152-28G>A
ENST00000332878.8:c.-8-2557G>A ENSP00000328410.4:n.-8-2557G>A
ENST00000400331.9:c.-152-28G>A ENSP00000383185.3:n.-152-28G>A
ENST00000471019.1:n.274-28G>A
ENST00000589011.1:c.-8-2557G>A ENSP00000466864.1:n.-8-2557G>A
NM_182762.3:c.-152-28G>A NP_877439.3:n.-152-28G>A
NM_182762.4:c.-152-28G>A MANE Select NP_877439.3:n.-152-28G>A
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