Canonical Allele Identifier: CA521013665

Gene: SKI

Linked Data

• dbSNP Id: rs1355543804
• gnomAD v2: 1-2234883-C-A
• gnomAD v4: 1-2303444-C-A
• MyVariant Identifiers: chr1:g.2234883C>A (hg19) ; chr1:g.2303444C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303444C>A , CM000663.2:g.2303444C>A	GRCh38
NC_000001.10:g.2234883C>A , CM000663.1:g.2234883C>A	GRCh37
NC_000001.9:g.2224743C>A	NCBI36
NG_013084.1:g.79750C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.379+44C>A
ENST00000378536.5:c.1211+44C>A MANE Select	ENSP00000367797.4:n.1211+44C>A
ENST00000378536.4:c.1211+44C>A	ENSP00000367797.4:n.1211+44C>A
NM_003036.3:c.1211+44C>A	NP_003027.1:n.1211+44C>A
XM_005244775.2:c.1211+44C>A	XP_005244832.1:n.1211+44C>A
XM_005244776.3:c.341+44C>A	XP_005244833.1:n.341+44C>A
XM_005244775.3:c.1211+44C>A	XP_005244832.1:n.1211+44C>A
XM_005244776.4:c.341+44C>A	XP_005244833.1:n.341+44C>A
XM_017002128.1:c.719+44C>A	XP_016857617.1:n.719+44C>A
NM_003036.4:c.1211+44C>A MANE Select	NP_003027.1:n.1211+44C>A