Canonical Allele Identifier: CA580117001

Gene: PSD3

Linked Data

• dbSNP Id: rs7833787
• gnomAD v2: 8-18707871-A-T
• gnomAD v3: 8-18850361-A-T
• gnomAD v4: 8-18850361-A-T
• MyVariant Identifiers: chr8:g.18707871A>T (hg19) ; chr8:g.18850361A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18850361A>T , CM000670.2:g.18850361A>T	GRCh38
NC_000008.10:g.18707871A>T , CM000670.1:g.18707871A>T	GRCh37
NC_000008.9:g.18752151A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000327040.13:c.1634+17313T>A MANE Select	ENSP00000324127.8:n.1634+17313T>A
ENST00000327040.12:c.1634+17313T>A	ENSP00000324127.8:n.1634+17313T>A
ENST00000440756.4:c.1634+17313T>A	ENSP00000401704.3:n.1634+17313T>A
ENST00000518303.5:n.239+3737T>A
ENST00000519851.5:c.-44+3737T>A	ENSP00000429069.1:n.-44+3737T>A
ENST00000523619.5:c.1439+17313T>A	ENSP00000430640.1:n.1439+17313T>A
NM_015310.3:c.1634+17313T>A	NP_056125.3:n.1634+17313T>A
XM_011544462.1:c.2366+17313T>A	XP_011542764.1:n.2366+17313T>A
XM_011544463.1:c.1673+17313T>A	XP_011542765.1:n.1673+17313T>A
XM_011544464.1:c.1634+17313T>A	XP_011542766.1:n.1634+17313T>A
XM_011544465.1:c.1631+17313T>A	XP_011542767.1:n.1631+17313T>A
XM_011544466.1:c.1439+17313T>A	XP_011542768.1:n.1439+17313T>A
XM_011544467.1:c.2366+17313T>A	XP_011542769.1:n.2366+17313T>A
XM_011544468.1:c.2366+17313T>A	XP_011542770.1:n.2366+17313T>A
XM_011544469.1:c.2366+17313T>A	XP_011542771.1:n.2366+17313T>A
XM_011544470.1:c.1439+17313T>A	XP_011542772.1:n.1439+17313T>A
XM_011544471.1:c.2366+17313T>A	XP_011542773.1:n.2366+17313T>A
XM_011544472.1:c.2366+17313T>A	XP_011542774.1:n.2366+17313T>A
XM_011544473.1:c.2366+17313T>A	XP_011542775.1:n.2366+17313T>A
XM_011544475.1:c.-44+3737T>A	XP_011542777.1:n.-44+3737T>A
XR_949388.1:n.2584+17313T>A
NM_001362819.1:c.1535+17313T>A	NP_001349748.1:n.1535+17313T>A
XM_011544467.2:c.2366+17313T>A	XP_011542769.1:n.2366+17313T>A
XM_011544468.2:c.2366+17313T>A	XP_011542770.1:n.2366+17313T>A
XM_011544469.2:c.2366+17313T>A	XP_011542771.1:n.2366+17313T>A
XM_011544471.2:c.2366+17313T>A	XP_011542773.1:n.2366+17313T>A
XM_011544473.2:c.2366+17313T>A	XP_011542775.1:n.2366+17313T>A
XM_017013258.1:c.1694+17313T>A	XP_016868747.1:n.1694+17313T>A
XM_017013259.1:c.1673+17313T>A	XP_016868748.1:n.1673+17313T>A
XM_017013260.1:c.1631+17313T>A	XP_016868749.1:n.1631+17313T>A
XM_017013262.1:c.2366+17313T>A	XP_016868751.1:n.2366+17313T>A
XM_017013263.1:c.2366+17313T>A	XP_016868752.1:n.2366+17313T>A
XM_017013264.1:c.1634+17313T>A	XP_016868753.1:n.1634+17313T>A
XM_024447113.1:c.1439+17313T>A	XP_024302881.1:n.1439+17313T>A
NM_015310.4:c.1634+17313T>A MANE Select	NP_056125.3:n.1634+17313T>A
NM_001362819.2:c.1535+17313T>A	NP_001349748.1:n.1535+17313T>A