Canonical Allele Identifier: CA1409289890
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs2087404751
gnomAD v4: 3-147413764-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413764T>C , CM000665.2:g.147413764T>C GRCh38
NC_000003.11:g.147131551T>C , CM000665.1:g.147131551T>C GRCh37
NC_000003.10:g.148614241T>C NCBI36
NG_015886.1:g.9371T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.*213T>C MANE Select ENSP00000282928.4:n.*213T>C
ENST00000282928.4:c.*213T>C ENSP00000282928.4:n.*213T>C
ENST00000472523.1:n.521+19822T>C
NM_003412.3:c.*213T>C NP_003403.2:n.*213T>C
NM_003412.4:c.*213T>C MANE Select NP_003403.2:n.*213T>C
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