Canonical Allele Identifier: CA436193466
Gene: ZIC1 HGNC NCBI

Linked Data

dbSNP Id: rs1559971071
MyVariant Identifiers: chr3:g.147131239C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413452C>T , CM000665.2:g.147413452C>T GRCh38
NC_000003.11:g.147131239C>T , CM000665.1:g.147131239C>T GRCh37
NC_000003.10:g.148613929C>T NCBI36
NG_015886.1:g.9059C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1245C>T MANE Select ENSP00000282928.4:p.Asp415=
ENST00000282928.4:c.1245C>T ENSP00000282928.4:p.Asp415=
ENST00000472523.1:n.521+19510C>T
ENST00000488404.5:c.311C>T
NM_003412.3:c.1245C>T NP_003403.2:p.Asp415=
NM_003412.4:c.1245C>T MANE Select NP_003403.2:p.Asp415=