Canonical Allele Identifier: CA414770219

Gene: ZIC3

Linked Data

• MyVariant Identifiers: chrX:g.136649425T>A (hg19) ; chrX:g.137567266T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287538.10:c.575T>A MANE Select	ENSP00000287538.5:p.Leu192Gln
ENST00000287538.9:c.575T>A	ENSP00000287538.5:p.Leu192Gln
ENST00000370606.3:c.575T>A	ENSP00000359638.3:p.Leu192Gln
NM_003413.3:c.575T>A	NP_003404.1:p.Leu192Gln
NM_001330661.1:c.575T>A	NP_001317590.1:p.Leu192Gln
NM_003413.4:c.575T>A MANE Select	NP_003404.1:p.Leu192Gln