Canonical Allele Identifier: CA572881824
Gene: MACC1 HGNC NCBI

Linked Data

dbSNP Id: rs1231533149
gnomAD v2: 7-20203752-G-A
gnomAD v3: 7-20164129-G-A
gnomAD v4: 7-20164129-G-A
MyVariant Identifiers: chr7:g.20203752G>A (hg19) chr7:g.20164129G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164129G>A , CM000669.2:g.20164129G>A GRCh38
NC_000007.13:g.20203752G>A , CM000669.1:g.20203752G>A GRCh37
NC_000007.12:g.20170277G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-9+127C>T MANE Select ENSP00000383185.3:n.-9+127C>T
ENST00000332878.8:c.-8-2259C>T ENSP00000328410.4:n.-8-2259C>T
ENST00000400331.9:c.-9+127C>T ENSP00000383185.3:n.-9+127C>T
ENST00000589011.1:c.-8-2259C>T ENSP00000466864.1:n.-8-2259C>T
NM_182762.3:c.-9+127C>T NP_877439.3:n.-9+127C>T
NM_182762.4:c.-9+127C>T MANE Select NP_877439.3:n.-9+127C>T
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