Canonical Allele Identifier: CA212983355

Gene: PDZD7

Linked Data

• dbSNP Id: rs953422571
• MyVariant Identifiers: chr10:g.102777878G>A (hg19) ; chr10:g.101018121G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101018121G>A , CM000672.2:g.101018121G>A	GRCh38
NC_000010.10:g.102777878G>A , CM000672.1:g.102777878G>A	GRCh37
NC_000010.9:g.102767868G>A	NCBI36
NG_028030.1:g.18037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474125.7:c.*1678C>T	ENSP00000474447.1:n.*1678C>T
ENST00000619208.6:c.1500C>T MANE Select	ENSP00000480489.1:p.Tyr500=
ENST00000644782.1:c.1500C>T	ENSP00000496747.1:p.Tyr500=
ENST00000645349.1:c.1500C>T	ENSP00000495283.1:p.Tyr500=
ENST00000370215.7:c.1500C>T	ENSP00000359234.3:p.Tyr500=
ENST00000433616.5:c.224C>T
ENST00000474125.6:c.*1678C>T	ENSP00000474447.1:n.*1678C>T
ENST00000619208.4:c.1500C>T	ENSP00000480489.1:p.Tyr500=
NM_001195263.1:c.1500C>T	NP_001182192.1:p.Tyr500=
NM_024895.4:c.1500C>T	NP_079171.1:p.Tyr500=
XM_005270165.1:c.1500C>T	XP_005270222.1:p.Tyr500=
XM_011540177.1:c.1500C>T	XP_011538479.1:p.Tyr500=
XM_011540178.1:c.1500C>T	XP_011538480.1:p.Tyr500=
XM_011540179.1:c.1500C>T	XP_011538481.1:p.Tyr500=
XM_011540180.1:c.1528C>T	XP_011538482.1:p.Pro510Ser
XM_011540181.1:c.1500C>T	XP_011538483.1:p.Tyr500=
XM_011540182.1:c.1528C>T	XP_011538484.1:p.Pro510Ser
XM_011540183.1:c.1528C>T	XP_011538485.1:p.Pro510Ser
XR_945815.1:n.1776C>T
XR_945816.1:n.1776C>T
NM_001351044.1:c.1528C>T	NP_001337973.1:p.Pro510Ser
XM_005270165.3:c.1500C>T	XP_005270222.1:p.Tyr500=
XM_011540177.3:c.1500C>T	XP_011538479.1:p.Tyr500=
XM_011540178.3:c.1500C>T	XP_011538480.1:p.Tyr500=
XM_011540179.3:c.1500C>T	XP_011538481.1:p.Tyr500=
XM_011540181.3:c.1500C>T	XP_011538483.1:p.Tyr500=
XM_011540183.3:c.1528C>T	XP_011538485.1:p.Pro510Ser
XM_017016667.2:c.1500C>T	XP_016872156.1:p.Tyr500=
XM_017016668.2:c.1528C>T	XP_016872157.1:p.Pro510Ser
XR_001747203.2:n.1738C>T
XR_945816.3:n.1766C>T
NM_001195263.2:c.1500C>T MANE Select	NP_001182192.1:p.Tyr500=
NM_001351044.2:c.1528C>T	NP_001337973.1:p.Pro510Ser
NM_024895.5:c.1500C>T	NP_079171.1:p.Tyr500=