Canonical Allele Identifier: CA354898450
Gene: ZIC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.147131186A>C (hg19) chr3:g.147413399A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413399A>C , CM000665.2:g.147413399A>C GRCh38
NC_000003.11:g.147131186A>C , CM000665.1:g.147131186A>C GRCh37
NC_000003.10:g.148613876A>C NCBI36
NG_015886.1:g.9006A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1192A>C MANE Select ENSP00000282928.4:p.Ser398Arg
ENST00000282928.4:c.1192A>C ENSP00000282928.4:p.Ser398Arg
ENST00000472523.1:n.521+19457A>C
ENST00000488404.5:c.258A>C
NM_003412.3:c.1192A>C NP_003403.2:p.Ser398Arg
NM_003412.4:c.1192A>C MANE Select NP_003403.2:p.Ser398Arg
Search 100 bp 5'
Search 100 bp 3'