Canonical Allele Identifier: CA12716917

Gene: PSD3

Linked Data

• dbSNP Id: rs2410601
• gnomAD v2: 8-18922577-G-C
• gnomAD v3: 8-19065067-G-C
• gnomAD v4: 8-19065067-G-C
• MyVariant Identifiers: chr8:g.18922577G>C (hg19) ; chr8:g.19065067G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.19065067G>C , CM000670.2:g.19065067G>C	GRCh38
NC_000008.10:g.18922577G>C , CM000670.1:g.18922577G>C	GRCh37
NC_000008.9:g.18966857G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000521475.1:c.324+19139C>G	ENSP00000428405.1:n.324+19139C>G
XM_011544462.1:c.753+19139C>G	XP_011542764.1:n.753+19139C>G
XM_011544467.1:c.753+19139C>G	XP_011542769.1:n.753+19139C>G
XM_011544468.1:c.753+19139C>G	XP_011542770.1:n.753+19139C>G
XM_011544469.1:c.753+19139C>G	XP_011542771.1:n.753+19139C>G
XM_011544471.1:c.753+19139C>G	XP_011542773.1:n.753+19139C>G
XM_011544472.1:c.753+19139C>G	XP_011542774.1:n.753+19139C>G
XM_011544473.1:c.753+19139C>G	XP_011542775.1:n.753+19139C>G
XR_949388.1:n.971+19139C>G
XM_011544467.2:c.753+19139C>G	XP_011542769.1:n.753+19139C>G
XM_011544468.2:c.753+19139C>G	XP_011542770.1:n.753+19139C>G
XM_011544469.2:c.753+19139C>G	XP_011542771.1:n.753+19139C>G
XM_011544471.2:c.753+19139C>G	XP_011542773.1:n.753+19139C>G
XM_011544473.2:c.753+19139C>G	XP_011542775.1:n.753+19139C>G
XM_017013262.1:c.753+19139C>G	XP_016868751.1:n.753+19139C>G
XM_017013263.1:c.753+19139C>G	XP_016868752.1:n.753+19139C>G