Canonical Allele Identifier: CA2688054646

Gene: STK3

Linked Data

• gnomAD v4: 8-98883100-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.98883100T>G , CM000670.2:g.98883100T>G	GRCh38
NC_000008.10:g.99895328T>G , CM000670.1:g.99895328T>G	GRCh37
NC_000008.9:g.99964504T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000523567.1:n.149+547A>C
ENST00000523601.5:c.110+547A>C	ENSP00000429744.1:n.110+547A>C
ENST00000523960.1:n.1131A>C
NM_001256312.1:c.110+547A>C	NP_001243241.1:n.110+547A>C
XM_011517247.1:c.110+547A>C	XP_011515549.1:n.110+547A>C
XM_011517248.1:c.110+547A>C	XP_011515550.1:n.110+547A>C
XM_011517249.1:c.110+547A>C	XP_011515551.1:n.110+547A>C
XM_011517250.1:c.110+547A>C	XP_011515552.1:n.110+547A>C
XM_011517252.1:c.110+547A>C	XP_011515554.1:n.110+547A>C
XM_011517256.1:c.110+547A>C	XP_011515558.1:n.110+547A>C
XM_011517257.1:c.110+547A>C	XP_011515559.1:n.110+547A>C
XM_011517248.2:c.281+547A>C	XP_011515550.2:n.281+547A>C
XM_011517252.3:c.281+547A>C	XP_011515554.2:n.281+547A>C
XM_011517257.2:c.281+547A>C	XP_011515559.2:n.281+547A>C
XM_017013756.1:c.281+547A>C	XP_016869245.1:n.281+547A>C
XM_017013757.1:c.281+547A>C	XP_016869246.1:n.281+547A>C
XM_017013762.2:c.281+547A>C	XP_016869251.1:n.281+547A>C
XR_001745584.1:n.2140+547A>C
XR_001745585.1:n.2140+547A>C
XR_001745586.1:n.2140+547A>C
NM_001256312.2:c.110+547A>C	NP_001243241.1:n.110+547A>C