Canonical Allele Identifier: CA572881839
Gene: MACC1 HGNC NCBI

Linked Data

dbSNP Id: rs1394497975
gnomAD v2: 7-20204038-A-T
gnomAD v3: 7-20164415-A-T
gnomAD v4: 7-20164415-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164415A>T , CM000669.2:g.20164415A>T GRCh38
NC_000007.13:g.20204038A>T , CM000669.1:g.20204038A>T GRCh37
NC_000007.12:g.20170563A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000400331.10:c.-152-16T>A MANE Select ENSP00000383185.3:n.-152-16T>A
ENST00000332878.8:c.-8-2545T>A ENSP00000328410.4:n.-8-2545T>A
ENST00000400331.9:c.-152-16T>A ENSP00000383185.3:n.-152-16T>A
ENST00000471019.1:n.274-16T>A
ENST00000589011.1:c.-8-2545T>A ENSP00000466864.1:n.-8-2545T>A
NM_182762.3:c.-152-16T>A NP_877439.3:n.-152-16T>A
NM_182762.4:c.-152-16T>A MANE Select NP_877439.3:n.-152-16T>A