Canonical Allele Identifier: CA281607
Gene: ZIC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 11437
ClinVar RCV Id: RCV000012190
dbSNP Id: rs104894961

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137567449G>C , CM000685.2:g.137567449G>C GRCh38
NC_000023.10:g.136649608G>C , CM000685.1:g.136649608G>C GRCh37
NC_000023.9:g.136477274G>C NCBI36
NG_008115.1:g.6263G>C
NG_008115.2:g.6323G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000287538.10:c.758G>C MANE Select ENSP00000287538.5:p.Cys253Ser
ENST00000287538.9:c.758G>C ENSP00000287538.5:p.Cys253Ser
ENST00000370606.3:c.758G>C ENSP00000359638.3:p.Cys253Ser
NM_003413.3:c.758G>C NP_003404.1:p.Cys253Ser
NM_001330661.1:c.758G>C NP_001317590.1:p.Cys253Ser
NM_003413.4:c.758G>C MANE Select NP_003404.1:p.Cys253Ser