Canonical Allele Identifier: CA999815583

Gene: RPS6KA1

Linked Data

• dbSNP Id: rs2075930400
• gnomAD v3: 1-26539454-C-G
• gnomAD v4: 1-26539454-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26539454C>G , CM000663.2:g.26539454C>G	GRCh38
NC_000001.10:g.26865945C>G , CM000663.1:g.26865945C>G	GRCh37
NC_000001.9:g.26738532C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000374168.7:c.108+2485C>G MANE Select	ENSP00000363283.2:n.108+2485C>G
ENST00000374166.8:c.108+2485C>G	ENSP00000363281.4:n.108+2485C>G
ENST00000374168.6:c.108+2485C>G	ENSP00000363283.2:n.108+2485C>G
ENST00000524436.5:n.254+2485C>G
ENST00000525525.5:c.*95+2485C>G	ENSP00000434616.1:n.*95+2485C>G
ENST00000526040.6:c.108+2485C>G	ENSP00000436990.1:n.108+2485C>G
ENST00000526792.5:c.-169+2485C>G	ENSP00000431651.1:n.-169+2485C>G
ENST00000529454.5:c.-52+2485C>G	ENSP00000433039.1:n.-52+2485C>G
NM_002953.3:c.108+2485C>G	NP_002944.2:n.108+2485C>G
XM_005245967.2:c.-169+2485C>G	XP_005246024.1:n.-169+2485C>G
XM_011541898.1:c.-169+2485C>G	XP_011540200.1:n.-169+2485C>G
XM_024448871.1:c.-169+2485C>G	XP_024304639.1:n.-169+2485C>G
NM_002953.4:c.108+2485C>G MANE Select	NP_002944.2:n.108+2485C>G