Canonical Allele Identifier: CA355480171

Gene: SKIL

Linked Data

• MyVariant Identifiers: chr3:g.170079061A>C (hg19) ; chr3:g.170361273A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.170361273A>C , CM000665.2:g.170361273A>C	GRCh38
NC_000003.11:g.170079061A>C , CM000665.1:g.170079061A>C	GRCh37
NC_000003.10:g.171561755A>C	NCBI36
NG_030357.1:g.8589A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465590.2:c.942A>C	ENSP00000516712.1:p.Arg314Ser
ENST00000259119.9:c.942A>C MANE Select	ENSP00000259119.4:p.Arg314Ser
ENST00000259119.8:c.942A>C	ENSP00000259119.4:p.Arg314Ser
ENST00000413427.6:c.942A>C	ENSP00000400193.2:p.Arg314Ser
ENST00000426052.6:c.882A>C	ENSP00000406520.2:p.Arg294Ser
ENST00000458537.7:c.942A>C	ENSP00000415243.3:p.Arg314Ser
ENST00000470571.1:c.62A>C
NM_001145097.2:c.942A>C	NP_001138569.1:p.Arg314Ser
NM_001145098.2:c.882A>C	NP_001138570.1:p.Arg294Ser
NM_001248008.1:c.942A>C	NP_001234937.1:p.Arg314Ser
NM_005414.4:c.942A>C	NP_005405.2:p.Arg314Ser
XM_005247721.1:c.942A>C	XP_005247778.1:p.Arg314Ser
XM_006713735.1:c.942A>C	XP_006713798.1:p.Arg314Ser
XR_001740238.1:n.1107A>C
NM_005414.5:c.942A>C MANE Select	NP_005405.2:p.Arg314Ser
NM_001145098.3:c.882A>C	NP_001138570.1:p.Arg294Ser