Canonical Allele Identifier: CA1099112572
Gene: MACC1 HGNC NCBI

Linked Data

dbSNP Id: rs1782177561
gnomAD v3: 7-20164143-G-C
gnomAD v4: 7-20164143-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164143G>C , CM000669.2:g.20164143G>C GRCh38
NC_000007.13:g.20203766G>C , CM000669.1:g.20203766G>C GRCh37
NC_000007.12:g.20170291G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-9+113C>G MANE Select ENSP00000383185.3:n.-9+113C>G
ENST00000332878.8:c.-8-2273C>G ENSP00000328410.4:n.-8-2273C>G
ENST00000400331.9:c.-9+113C>G ENSP00000383185.3:n.-9+113C>G
ENST00000589011.1:c.-8-2273C>G ENSP00000466864.1:n.-8-2273C>G
NM_182762.3:c.-9+113C>G NP_877439.3:n.-9+113C>G
NM_182762.4:c.-9+113C>G MANE Select NP_877439.3:n.-9+113C>G
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