Canonical Allele Identifier: CA583819153
Gene: STK3 HGNC NCBI

Linked Data

dbSNP Id: rs1161187304
gnomAD v2: 8-99895419-A-G
gnomAD v3: 8-98883191-A-G
gnomAD v4: 8-98883191-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.98883191A>G , CM000670.2:g.98883191A>G GRCh38
NC_000008.10:g.99895419A>G , CM000670.1:g.99895419A>G GRCh37
NC_000008.9:g.99964595A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000523567.1:n.149+456T>C
ENST00000523601.5:c.110+456T>C ENSP00000429744.1:n.110+456T>C
ENST00000523960.1:n.1040T>C
NM_001256312.1:c.110+456T>C NP_001243241.1:n.110+456T>C
XM_011517247.1:c.110+456T>C XP_011515549.1:n.110+456T>C
XM_011517248.1:c.110+456T>C XP_011515550.1:n.110+456T>C
XM_011517249.1:c.110+456T>C XP_011515551.1:n.110+456T>C
XM_011517250.1:c.110+456T>C XP_011515552.1:n.110+456T>C
XM_011517252.1:c.110+456T>C XP_011515554.1:n.110+456T>C
XM_011517256.1:c.110+456T>C XP_011515558.1:n.110+456T>C
XM_011517257.1:c.110+456T>C XP_011515559.1:n.110+456T>C
XM_011517248.2:c.281+456T>C XP_011515550.2:n.281+456T>C
XM_011517252.3:c.281+456T>C XP_011515554.2:n.281+456T>C
XM_011517257.2:c.281+456T>C XP_011515559.2:n.281+456T>C
XM_017013756.1:c.281+456T>C XP_016869245.1:n.281+456T>C
XM_017013757.1:c.281+456T>C XP_016869246.1:n.281+456T>C
XM_017013762.2:c.281+456T>C XP_016869251.1:n.281+456T>C
XR_001745584.1:n.2140+456T>C
XR_001745585.1:n.2140+456T>C
XR_001745586.1:n.2140+456T>C
NM_001256312.2:c.110+456T>C NP_001243241.1:n.110+456T>C