Canonical Allele Identifier: CA404136157

Gene: PRKCSH

Linked Data

• dbSNP Id: rs1270491793
• gnomAD v4: 19-11447618-G-T
• MyVariant Identifiers: chr19:g.11558433G>T (hg19) ; chr19:g.11447618G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11447618G>T , CM000681.2:g.11447618G>T	GRCh38
NC_000019.9:g.11558433G>T , CM000681.1:g.11558433G>T	GRCh37
NC_000019.8:g.11419433G>T	NCBI36
NG_009300.1:g.17165G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000591462.6:c.1029G>T	ENSP00000465489.1:p.Lys343Asn
ENST00000677123.1:c.1029G>T MANE Select	ENSP00000503163.1:p.Lys343Asn
ENST00000585325.5:n.302G>T
ENST00000585540.1:n.220G>T
ENST00000586486.1:c.54G>T	ENSP00000465948.1:p.Lys18Asn
ENST00000587327.5:c.1029G>T	ENSP00000466012.1:p.Lys343Asn
ENST00000589838.5:c.1008+21G>T	ENSP00000465461.1:n.1008+21G>T
ENST00000591462.5:c.1029G>T	ENSP00000465489.1:p.Lys343Asn
ENST00000592445.1:n.276G>T
ENST00000592741.5:c.1029G>T	ENSP00000466134.1:p.Lys343Asn
NM_001001329.2:c.1029G>T	NP_001001329.1:p.Lys343Asn
NM_001289102.1:c.1029G>T	NP_001276031.1:p.Lys343Asn
NM_001289103.1:c.1029G>T	NP_001276032.1:p.Lys343Asn
NM_001289104.1:c.1029G>T	NP_001276033.1:p.Lys343Asn
NM_002743.3:c.1008+21G>T	NP_002734.2:n.1008+21G>T
XM_011528130.1:c.1029G>T	XP_011526432.1:p.Lys343Asn
XM_011528131.1:c.1008+21G>T	XP_011526433.1:n.1008+21G>T
XM_011528132.1:c.1029G>T	XP_011526434.1:p.Lys343Asn
XM_017026977.2:c.1008+21G>T	XP_016882466.1:n.1008+21G>T
XM_024451602.1:c.1029G>T	XP_024307370.1:p.Lys343Asn
NM_001001329.3:c.1029G>T	NP_001001329.1:p.Lys343Asn
NM_001289102.2:c.1029G>T	NP_001276031.1:p.Lys343Asn
NM_001289103.2:c.1029G>T	NP_001276032.1:p.Lys343Asn
NM_001289104.2:c.1029G>T MANE Select	NP_001276033.1:p.Lys343Asn
NM_001379608.1:c.1008+21G>T	NP_001366537.1:n.1008+21G>T
NM_001379609.1:c.1029G>T	NP_001366538.1:p.Lys343Asn