Canonical Allele Identifier: CA414769282
Gene: ZIC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137566837C>T , CM000685.2:g.137566837C>T GRCh38
NC_000023.10:g.136648996C>T , CM000685.1:g.136648996C>T GRCh37
NC_000023.9:g.136476662C>T NCBI36
NG_008115.1:g.5651C>T
NG_008115.2:g.5711C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287538.10:c.146C>T MANE Select ENSP00000287538.5:p.Ala49Val
ENST00000287538.9:c.146C>T ENSP00000287538.5:p.Ala49Val
ENST00000370606.3:c.146C>T ENSP00000359638.3:p.Ala49Val
NM_003413.3:c.146C>T NP_003404.1:p.Ala49Val
NM_001330661.1:c.146C>T NP_001317590.1:p.Ala49Val
NM_003413.4:c.146C>T MANE Select NP_003404.1:p.Ala49Val