Canonical Allele Identifier: CA2642721432

Gene: SKI

Linked Data

• gnomAD v4: 1-2303423-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2303423T>C , CM000663.2:g.2303423T>C	GRCh38
NC_000001.10:g.2234862T>C , CM000663.1:g.2234862T>C	GRCh37
NC_000001.9:g.2224722T>C	NCBI36
NG_013084.1:g.79729T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704337.1:n.379+23T>C
ENST00000378536.5:c.1211+23T>C MANE Select	ENSP00000367797.4:n.1211+23T>C
ENST00000378536.4:c.1211+23T>C	ENSP00000367797.4:n.1211+23T>C
NM_003036.3:c.1211+23T>C	NP_003027.1:n.1211+23T>C
XM_005244775.2:c.1211+23T>C	XP_005244832.1:n.1211+23T>C
XM_005244776.3:c.341+23T>C	XP_005244833.1:n.341+23T>C
XM_005244775.3:c.1211+23T>C	XP_005244832.1:n.1211+23T>C
XM_005244776.4:c.341+23T>C	XP_005244833.1:n.341+23T>C
XM_017002128.1:c.719+23T>C	XP_016857617.1:n.719+23T>C
NM_003036.4:c.1211+23T>C MANE Select	NP_003027.1:n.1211+23T>C