Canonical Allele Identifier: CA9080437
Gene: GIPC3 HGNC NCBI

Linked Data

dbSNP Id: rs545396974
gnomAD v2: 19-3586946-G-A
gnomAD v4: 19-3586948-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3586948G>A , CM000681.2:g.3586948G>A GRCh38
NC_000019.9:g.3586946G>A , CM000681.1:g.3586946G>A GRCh37
NC_000019.8:g.3537946G>A NCBI36
NG_031943.1:g.6378G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644452.3:c.546G>A MANE Select ENSP00000493901.2:p.Lys182=
ENST00000644946.1:c.546G>A ENSP00000495068.1:p.Lys182=
ENST00000322315.5:c.546G>A ENSP00000319254.5:p.Lys182=
NM_133261.2:c.546G>A NP_573568.1:p.Lys182=
XM_005259492.2:c.546G>A XP_005259549.1:p.Lys182=
XM_005259492.3:c.546G>A XP_005259549.1:p.Lys182=
NM_133261.3:c.546G>A MANE Select NP_573568.1:p.Lys182=