Canonical Allele Identifier: CA836505620
Gene: MACC1 HGNC NCBI

Linked Data

dbSNP Id: rs1450646223
gnomAD v3: 7-20164304-C-T
gnomAD v4: 7-20164304-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164304C>T , CM000669.2:g.20164304C>T GRCh38
NC_000007.13:g.20203927C>T , CM000669.1:g.20203927C>T GRCh37
NC_000007.12:g.20170452C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-57G>A MANE Select ENSP00000383185.3:n.-57G>A
ENST00000332878.8:c.-8-2434G>A ENSP00000328410.4:n.-8-2434G>A
ENST00000400331.9:c.-57G>A ENSP00000383185.3:n.-57G>A
ENST00000589011.1:c.-8-2434G>A ENSP00000466864.1:n.-8-2434G>A
NM_182762.3:c.-57G>A NP_877439.3:n.-57G>A
NM_182762.4:c.-57G>A MANE Select NP_877439.3:n.-57G>A