Canonical Allele Identifier: CA2681928017
Gene: MACC1 HGNC NCBI

Linked Data

gnomAD v4: 7-20164449-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164449G>A , CM000669.2:g.20164449G>A GRCh38
NC_000007.13:g.20204072G>A , CM000669.1:g.20204072G>A GRCh37
NC_000007.12:g.20170597G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-152-50C>T MANE Select ENSP00000383185.3:n.-152-50C>T
ENST00000332878.8:c.-8-2579C>T ENSP00000328410.4:n.-8-2579C>T
ENST00000400331.9:c.-152-50C>T ENSP00000383185.3:n.-152-50C>T
ENST00000471019.1:n.274-50C>T
ENST00000589011.1:c.-8-2579C>T ENSP00000466864.1:n.-8-2579C>T
NM_182762.3:c.-152-50C>T NP_877439.3:n.-152-50C>T
NM_182762.4:c.-152-50C>T MANE Select NP_877439.3:n.-152-50C>T
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