Canonical Allele Identifier: CA154994872
Gene: MACC1 HGNC NCBI

Linked Data

dbSNP Id: rs565425741
gnomAD v3: 7-20164154-C-A
gnomAD v4: 7-20164154-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164154C>A , CM000669.2:g.20164154C>A GRCh38
NC_000007.13:g.20203777C>A , CM000669.1:g.20203777C>A GRCh37
NC_000007.12:g.20170302C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-9+102G>T MANE Select ENSP00000383185.3:n.-9+102G>T
ENST00000332878.8:c.-8-2284G>T ENSP00000328410.4:n.-8-2284G>T
ENST00000400331.9:c.-9+102G>T ENSP00000383185.3:n.-9+102G>T
ENST00000589011.1:c.-8-2284G>T ENSP00000466864.1:n.-8-2284G>T
NM_182762.3:c.-9+102G>T NP_877439.3:n.-9+102G>T
NM_182762.4:c.-9+102G>T MANE Select NP_877439.3:n.-9+102G>T