Canonical Allele Identifier: CA1087691688
Gene: ITPR3 HGNC NCBI

Linked Data

dbSNP Id: rs1764155192
gnomAD v3: 6-33650207-T-C
gnomAD v4: 6-33650207-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33650207T>C , CM000668.2:g.33650207T>C GRCh38
NC_000006.11:g.33617984T>C , CM000668.1:g.33617984T>C GRCh37
NC_000006.10:g.33725962T>C NCBI36
NG_027729.1:g.33829T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000605930.3:c.161-5559T>C MANE Select ENSP00000475177.1:n.161-5559T>C
ENST00000374316.9:c.161-5559T>C ENSP00000363435.4:n.161-5559T>C
ENST00000605930.2:c.161-5559T>C ENSP00000475177.1:n.161-5559T>C
NM_002224.3:c.161-5559T>C NP_002215.2:n.161-5559T>C
XM_011514576.1:c.230-5559T>C XP_011512878.1:n.230-5559T>C
XM_017010832.1:c.161-5559T>C XP_016866321.1:n.161-5559T>C
NM_002224.4:c.161-5559T>C MANE Select NP_002215.2:n.161-5559T>C
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