Canonical Allele Identifier: CA403362576
Gene: GIPC3 HGNC NCBI

Linked Data

dbSNP Id: rs1449320776
gnomAD v2: 19-3586947-T-A
gnomAD v4: 19-3586949-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3586949T>A , CM000681.2:g.3586949T>A GRCh38
NC_000019.9:g.3586947T>A , CM000681.1:g.3586947T>A GRCh37
NC_000019.8:g.3537947T>A NCBI36
NG_031943.1:g.6379T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644452.3:c.547T>A MANE Select ENSP00000493901.2:p.Ser183Thr
ENST00000644946.1:c.547T>A ENSP00000495068.1:p.Ser183Thr
ENST00000322315.5:c.547T>A ENSP00000319254.5:p.Ser183Thr
NM_133261.2:c.547T>A NP_573568.1:p.Ser183Thr
XM_005259492.2:c.547T>A XP_005259549.1:p.Ser183Thr
XM_005259492.3:c.547T>A XP_005259549.1:p.Ser183Thr
NM_133261.3:c.547T>A MANE Select NP_573568.1:p.Ser183Thr