Canonical Allele Identifier: CA354898433
Gene: ZIC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.147413388C>T , CM000665.2:g.147413388C>T GRCh38
NC_000003.11:g.147131175C>T , CM000665.1:g.147131175C>T GRCh37
NC_000003.10:g.148613865C>T NCBI36
NG_015886.1:g.8995C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282928.5:c.1181C>T MANE Select ENSP00000282928.4:p.Ser394Leu
ENST00000282928.4:c.1181C>T ENSP00000282928.4:p.Ser394Leu
ENST00000472523.1:n.521+19446C>T
ENST00000488404.5:c.247C>T
NM_003412.3:c.1181C>T NP_003403.2:p.Ser394Leu
NM_003412.4:c.1181C>T MANE Select NP_003403.2:p.Ser394Leu