Canonical Allele Identifier: CA518857434

Gene: ZIC3

Linked Data

• dbSNP Id: rs1467197734
• gnomAD v2: X-136649423-G-A
• gnomAD v3: X-137567264-G-A
• gnomAD v4: X-137567264-G-A
• MyVariant Identifiers: chrX:g.136649423G>A (hg19) ; chrX:g.137567264G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.137567264G>A , CM000685.2:g.137567264G>A	GRCh38
NC_000023.10:g.136649423G>A , CM000685.1:g.136649423G>A	GRCh37
NC_000023.9:g.136477089G>A	NCBI36
NG_008115.1:g.6078G>A
NG_008115.2:g.6138G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287538.10:c.573G>A MANE Select	ENSP00000287538.5:p.Glu191=
ENST00000287538.9:c.573G>A	ENSP00000287538.5:p.Glu191=
ENST00000370606.3:c.573G>A	ENSP00000359638.3:p.Glu191=
NM_003413.3:c.573G>A	NP_003404.1:p.Glu191=
NM_001330661.1:c.573G>A	NP_001317590.1:p.Glu191=
NM_003413.4:c.573G>A MANE Select	NP_003404.1:p.Glu191=