Canonical Allele Identifier: CA572881825
Gene: MACC1 HGNC NCBI

Linked Data

dbSNP Id: rs1236187369
gnomAD v2: 7-20203778-T-G
gnomAD v3: 7-20164155-T-G
gnomAD v4: 7-20164155-T-G
MyVariant Identifiers: chr7:g.20203778T>G (hg19) chr7:g.20164155T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164155T>G , CM000669.2:g.20164155T>G GRCh38
NC_000007.13:g.20203778T>G , CM000669.1:g.20203778T>G GRCh37
NC_000007.12:g.20170303T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-9+101A>C MANE Select ENSP00000383185.3:n.-9+101A>C
ENST00000332878.8:c.-8-2285A>C ENSP00000328410.4:n.-8-2285A>C
ENST00000400331.9:c.-9+101A>C ENSP00000383185.3:n.-9+101A>C
ENST00000589011.1:c.-8-2285A>C ENSP00000466864.1:n.-8-2285A>C
NM_182762.3:c.-9+101A>C NP_877439.3:n.-9+101A>C
NM_182762.4:c.-9+101A>C MANE Select NP_877439.3:n.-9+101A>C
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