Canonical Allele Identifier: CA10529317
Gene: ZIC3 HGNC NCBI

Linked Data

dbSNP Id: rs373327450
ExAC: X:136649532 G / A
gnomAD v3: X-137567373-G-A
gnomAD v4: X-137567373-G-A
MyVariant Identifiers: chrX:g.136649532G>A (hg19) chrX:g.137567373G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137567373G>A , CM000685.2:g.137567373G>A GRCh38
NC_000023.10:g.136649532G>A , CM000685.1:g.136649532G>A GRCh37
NC_000023.9:g.136477198G>A NCBI36
NG_008115.1:g.6187G>A
NG_008115.2:g.6247G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000287538.10:c.682G>A MANE Select ENSP00000287538.5:p.Val228Met
ENST00000287538.9:c.682G>A ENSP00000287538.5:p.Val228Met
ENST00000370606.3:c.682G>A ENSP00000359638.3:p.Val228Met
NM_003413.3:c.682G>A NP_003404.1:p.Val228Met
NM_001330661.1:c.682G>A NP_001317590.1:p.Val228Met
NM_003413.4:c.682G>A MANE Select NP_003404.1:p.Val228Met
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