Canonical Allele Identifier: CA1149511992

Gene: SKI

Linked Data

• dbSNP Id: rs1640472946
• gnomAD v4: 1-2303273-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303273C>G , CM000663.2:g.2303273C>G	GRCh38
NC_000001.10:g.2234712C>G , CM000663.1:g.2234712C>G	GRCh37
NC_000001.9:g.2224572C>G	NCBI36
NG_013084.1:g.79579C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.264-12C>G
ENST00000378536.5:c.1096-12C>G MANE Select	ENSP00000367797.4:n.1096-12C>G
ENST00000378536.4:c.1096-12C>G	ENSP00000367797.4:n.1096-12C>G
ENST00000478223.2:n.203-12C>G
NM_003036.3:c.1096-12C>G	NP_003027.1:n.1096-12C>G
XM_005244775.2:c.1096-12C>G	XP_005244832.1:n.1096-12C>G
XM_005244776.3:c.226-12C>G	XP_005244833.1:n.226-12C>G
XM_005244775.3:c.1096-12C>G	XP_005244832.1:n.1096-12C>G
XM_005244776.4:c.226-12C>G	XP_005244833.1:n.226-12C>G
XM_017002128.1:c.604-12C>G	XP_016857617.1:n.604-12C>G
NM_003036.4:c.1096-12C>G MANE Select	NP_003027.1:n.1096-12C>G