Canonical Allele Identifier: CA336368855
Gene: ZIC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 545553
ClinVar RCV Id: RCV000754888
dbSNP Id: rs122463167
MyVariant Identifiers: chrX:g.136649607T>A (hg19) chrX:g.137567448T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137567448T>A , CM000685.2:g.137567448T>A GRCh38
NC_000023.10:g.136649607T>A , CM000685.1:g.136649607T>A GRCh37
NC_000023.9:g.136477273T>A NCBI36
NG_008115.1:g.6262T>A
NG_008115.2:g.6322T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000287538.10:c.757T>A MANE Select ENSP00000287538.5:p.Cys253Ser
ENST00000287538.9:c.757T>A ENSP00000287538.5:p.Cys253Ser
ENST00000370606.3:c.757T>A ENSP00000359638.3:p.Cys253Ser
NM_003413.3:c.757T>A NP_003404.1:p.Cys253Ser
NM_001330661.1:c.757T>A NP_001317590.1:p.Cys253Ser
NM_003413.4:c.757T>A MANE Select NP_003404.1:p.Cys253Ser
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