Canonical Allele Identifier: CA2642721421

Gene: SKI

Linked Data

• gnomAD v4: 1-2303411-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303411G>T , CM000663.2:g.2303411G>T	GRCh38
NC_000001.10:g.2234850G>T , CM000663.1:g.2234850G>T	GRCh37
NC_000001.9:g.2224710G>T	NCBI36
NG_013084.1:g.79717G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.379+11G>T
ENST00000378536.5:c.1211+11G>T MANE Select	ENSP00000367797.4:n.1211+11G>T
ENST00000378536.4:c.1211+11G>T	ENSP00000367797.4:n.1211+11G>T
NM_003036.3:c.1211+11G>T	NP_003027.1:n.1211+11G>T
XM_005244775.2:c.1211+11G>T	XP_005244832.1:n.1211+11G>T
XM_005244776.3:c.341+11G>T	XP_005244833.1:n.341+11G>T
XM_005244775.3:c.1211+11G>T	XP_005244832.1:n.1211+11G>T
XM_005244776.4:c.341+11G>T	XP_005244833.1:n.341+11G>T
XM_017002128.1:c.719+11G>T	XP_016857617.1:n.719+11G>T
NM_003036.4:c.1211+11G>T MANE Select	NP_003027.1:n.1211+11G>T