Canonical Allele Identifier: CA10529326
Gene: ZIC3 HGNC NCBI

Linked Data

dbSNP Id: rs760583163
ExAC: X:136649666 C / T
gnomAD v2: X-136649666-C-T
gnomAD v3: X-137567507-C-T
gnomAD v4: X-137567507-C-T
MyVariant Identifiers: chrX:g.136649666C>T (hg19) chrX:g.137567507C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137567507C>T , CM000685.2:g.137567507C>T GRCh38
NC_000023.10:g.136649666C>T , CM000685.1:g.136649666C>T GRCh37
NC_000023.9:g.136477332C>T NCBI36
NG_008115.1:g.6321C>T
NG_008115.2:g.6381C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000287538.10:c.816C>T MANE Select ENSP00000287538.5:p.Phe272=
ENST00000287538.9:c.816C>T ENSP00000287538.5:p.Phe272=
ENST00000370606.3:c.816C>T ENSP00000359638.3:p.Phe272=
NM_003413.3:c.816C>T NP_003404.1:p.Phe272=
NM_001330661.1:c.816C>T NP_001317590.1:p.Phe272=
NM_003413.4:c.816C>T MANE Select NP_003404.1:p.Phe272=
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