Canonical Allele Identifier: CA212542

Gene: ZIC3

Linked Data

• ClinVar Variation Id: 190129
• ClinVar RCV Id: RCV000198780 ; RCV000201846 ; RCV000360572 ; RCV000248648 ; RCV001563202
• dbSNP Id: rs147232392
• ExAC: X:136648899 G / T
• gnomAD v2: X-136648899-G-T
• gnomAD v3: X-137566740-G-T
• gnomAD v4: X-137566740-G-T
• MyVariant Identifiers: chrX:g.136648899G>T (hg19) ; chrX:g.137566740G>T (hg38)
• PubMed: PMID:2629409 ; PMID:26294094

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.137566740G>T , CM000685.2:g.137566740G>T	GRCh38
NC_000023.10:g.136648899G>T , CM000685.1:g.136648899G>T	GRCh37
NC_000023.9:g.136476565G>T	NCBI36
NG_008115.1:g.5554G>T
NG_008115.2:g.5614G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287538.10:c.49G>T MANE Select	ENSP00000287538.5:p.Gly17Cys
ENST00000287538.9:c.49G>T	ENSP00000287538.5:p.Gly17Cys
ENST00000370606.3:c.49G>T	ENSP00000359638.3:p.Gly17Cys
NM_003413.3:c.49G>T	NP_003404.1:p.Gly17Cys
NM_001330661.1:c.49G>T	NP_001317590.1:p.Gly17Cys
NM_003413.4:c.49G>T MANE Select	NP_003404.1:p.Gly17Cys