Canonical Allele Identifier: CA414769283

Gene: ZIC3

Linked Data

• dbSNP Id: rs749880079
• gnomAD v4: X-137566839-G-T
• MyVariant Identifiers: chrX:g.136648998G>T (hg19) ; chrX:g.137566839G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.137566839G>T , CM000685.2:g.137566839G>T	GRCh38
NC_000023.10:g.136648998G>T , CM000685.1:g.136648998G>T	GRCh37
NC_000023.9:g.136476664G>T	NCBI36
NG_008115.1:g.5653G>T
NG_008115.2:g.5713G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287538.10:c.148G>T MANE Select	ENSP00000287538.5:p.Ala50Ser
ENST00000287538.9:c.148G>T	ENSP00000287538.5:p.Ala50Ser
ENST00000370606.3:c.148G>T	ENSP00000359638.3:p.Ala50Ser
NM_003413.3:c.148G>T	NP_003404.1:p.Ala50Ser
NM_001330661.1:c.148G>T	NP_001317590.1:p.Ala50Ser
NM_003413.4:c.148G>T MANE Select	NP_003404.1:p.Ala50Ser