Canonical Allele Identifier: CA337956655

Gene: SKI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2304039G>C , CM000663.2:g.2304039G>C	GRCh38
NC_000001.10:g.2235478G>C , CM000663.1:g.2235478G>C	GRCh37
NC_000001.9:g.2225338G>C	NCBI36
NG_013084.1:g.80345G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003036.4:c.1411G>C MANE Select	NP_003027.1:p.Val471Leu
ENST00000378536.5:c.1411G>C MANE Select	ENSP00000367797.4:p.Val471Leu
NM_003036.3:c.1411G>C	NP_003027.1:p.Val471Leu
ENST00000378536.4:c.1411G>C	ENSP00000367797.4:p.Val471Leu
ENST00000507179.1:n.394G>C
XM_005244775.2:c.1411G>C	XP_005244832.1:p.Val471Leu
XM_005244775.3:c.1411G>C	XP_005244832.1:p.Val471Leu
XM_005244776.3:c.541G>C	XP_005244833.1:p.Val181Leu
XM_005244776.4:c.541G>C	XP_005244833.1:p.Val181Leu
XM_017002128.1:c.919G>C	XP_016857617.1:p.Val307Leu