Canonical Allele Identifier: CA518824734

Gene: ZIC3

Linked Data

• dbSNP Id: rs1931371802
• gnomAD v3: X-137567705-C-T
• gnomAD v4: X-137567705-C-T
• MyVariant Identifiers: chrX:g.136649864C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.137567705C>T , CM000685.2:g.137567705C>T	GRCh38
NC_000023.10:g.136649864C>T , CM000685.1:g.136649864C>T	GRCh37
NC_000023.9:g.136477530C>T	NCBI36
NG_008115.1:g.6519C>T
NG_008115.2:g.6579C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287538.10:c.1014C>T MANE Select	ENSP00000287538.5:p.Ile338=
ENST00000287538.9:c.1014C>T	ENSP00000287538.5:p.Ile338=
ENST00000370606.3:c.1014C>T	ENSP00000359638.3:p.Ile338=
NM_003413.3:c.1014C>T	NP_003404.1:p.Ile338=
NM_001330661.1:c.1014C>T	NP_001317590.1:p.Ile338=
NM_003413.4:c.1014C>T MANE Select	NP_003404.1:p.Ile338=