Canonical Allele Identifier: CA367764118

Gene: ZP3

Linked Data

• ClinVar Variation Id: 437933
• ClinVar RCV Id: RCV000505809 ; RCV000509059
• dbSNP Id: rs1554625334
• gnomAD v4: 7-76429602-G-A
• MyVariant Identifiers: chr7:g.76058919G>A (hg19) ; chr7:g.76429602G>A (hg38)
• PubMed: PMID:28886344

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76429602G>A , CM000669.2:g.76429602G>A	GRCh38
NC_000007.13:g.76058919G>A , CM000669.1:g.76058919G>A	GRCh37
NC_000007.12:g.75896855G>A	NCBI36
NG_033938.1:g.37079G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394857.8:c.400G>A MANE Select	ENSP00000378326.3:p.Ala134Thr
ENST00000336517.8:c.247G>A	ENSP00000337310.4:p.Ala83Thr
ENST00000394857.7:c.400G>A	ENSP00000378326.3:p.Ala134Thr
ENST00000416245.5:c.-129G>A	ENSP00000411955.1:n.-129G>A
NM_001110354.1:c.400G>A	NP_001103824.1:p.Ala134Thr
NM_007155.5:c.247G>A	NP_009086.4:p.Ala83Thr
XM_017012586.2:c.247G>A	XP_016868075.1:p.Ala83Thr
NM_001110354.2:c.400G>A MANE Select	NP_001103824.1:p.Ala134Thr
NM_007155.6:c.247G>A	NP_009086.4:p.Ala83Thr