Canonical Allele Identifier: CA1099112613
Gene: MACC1 HGNC NCBI

Linked Data

dbSNP Id: rs1782180104
gnomAD v4: 7-20164240-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164240T>A , CM000669.2:g.20164240T>A GRCh38
NC_000007.13:g.20203863T>A , CM000669.1:g.20203863T>A GRCh37
NC_000007.12:g.20170388T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-9+16A>T MANE Select ENSP00000383185.3:n.-9+16A>T
ENST00000332878.8:c.-8-2370A>T ENSP00000328410.4:n.-8-2370A>T
ENST00000400331.9:c.-9+16A>T ENSP00000383185.3:n.-9+16A>T
ENST00000589011.1:c.-8-2370A>T ENSP00000466864.1:n.-8-2370A>T
NM_182762.3:c.-9+16A>T NP_877439.3:n.-9+16A>T
NM_182762.4:c.-9+16A>T MANE Select NP_877439.3:n.-9+16A>T