Canonical Allele Identifier: CA504967801
Gene: GIPC3 HGNC NCBI

Linked Data

dbSNP Id: rs1242302442
gnomAD v2: 19-3586955-C-T
gnomAD v4: 19-3586957-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3586957C>T , CM000681.2:g.3586957C>T GRCh38
NC_000019.9:g.3586955C>T , CM000681.1:g.3586955C>T GRCh37
NC_000019.8:g.3537955C>T NCBI36
NG_031943.1:g.6387C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644452.3:c.555C>T MANE Select ENSP00000493901.2:p.Pro185=
ENST00000644946.1:c.555C>T ENSP00000495068.1:p.Pro185=
ENST00000322315.5:c.555C>T ENSP00000319254.5:p.Pro185=
NM_133261.2:c.555C>T NP_573568.1:p.Pro185=
XM_005259492.2:c.555C>T XP_005259549.1:p.Pro185=
XM_005259492.3:c.555C>T XP_005259549.1:p.Pro185=
NM_133261.3:c.555C>T MANE Select NP_573568.1:p.Pro185=