Canonical Allele Identifier: CA414770221
Gene: ZIC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137567266T>G , CM000685.2:g.137567266T>G GRCh38
NC_000023.10:g.136649425T>G , CM000685.1:g.136649425T>G GRCh37
NC_000023.9:g.136477091T>G NCBI36
NG_008115.1:g.6080T>G
NG_008115.2:g.6140T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000287538.10:c.575T>G MANE Select ENSP00000287538.5:p.Leu192Arg
ENST00000287538.9:c.575T>G ENSP00000287538.5:p.Leu192Arg
ENST00000370606.3:c.575T>G ENSP00000359638.3:p.Leu192Arg
NM_003413.3:c.575T>G NP_003404.1:p.Leu192Arg
NM_001330661.1:c.575T>G NP_001317590.1:p.Leu192Arg
NM_003413.4:c.575T>G MANE Select NP_003404.1:p.Leu192Arg