Canonical Allele Identifier: CA414770220
Gene: ZIC3 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000287538.10:c.575T>C MANE Select ENSP00000287538.5:p.Leu192Pro
ENST00000287538.9:c.575T>C ENSP00000287538.5:p.Leu192Pro
ENST00000370606.3:c.575T>C ENSP00000359638.3:p.Leu192Pro
NM_003413.3:c.575T>C NP_003404.1:p.Leu192Pro
NM_001330661.1:c.575T>C NP_001317590.1:p.Leu192Pro
NM_003413.4:c.575T>C MANE Select NP_003404.1:p.Leu192Pro