Canonical Allele Identifier: CA3347055

Gene: SKIC3

Linked Data

• dbSNP Id: rs566472241
• ExAC: 5:94852288 T / A
• gnomAD v2: 5-94852288-T-A
• gnomAD v3: 5-95516584-T-A
• gnomAD v4: 5-95516584-T-A
• MyVariant Identifiers: chr5:g.94852288T>A (hg19) ; chr5:g.95516584T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516584T>A , CM000667.2:g.95516584T>A	GRCh38
NC_000005.9:g.94852288T>A , CM000667.1:g.94852288T>A	GRCh37
NC_000005.8:g.94878044T>A	NCBI36
NG_023414.1:g.43422A>T , LRG_173:g.43422A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000506007.2:n.3058A>T
ENST00000513232.2:c.*1483A>T	ENSP00000422749.2:n.*1483A>T
ENST00000698450.1:n.1902A>T
ENST00000698451.1:n.2188A>T
ENST00000698452.1:n.3259A>T
ENST00000698453.1:c.2444A>T	ENSP00000513735.1:p.Tyr815Phe
ENST00000698454.1:c.2509A>T	ENSP00000513736.1:p.Ile837Phe
ENST00000698455.1:c.*2744A>T	ENSP00000513737.1:n.*2744A>T
ENST00000698456.1:c.*1376A>T	ENSP00000513738.1:n.*1376A>T
ENST00000698457.1:c.2308A>T	ENSP00000513739.1:p.Ile770Phe
ENST00000698458.1:c.2480A>T	ENSP00000513740.1:p.Tyr827Phe
ENST00000698459.1:c.2518A>T	ENSP00000513741.1:p.Ile840Phe
ENST00000698460.1:c.*281A>T	ENSP00000513742.1:n.*281A>T
ENST00000698461.1:n.2973A>T
ENST00000698462.1:n.2893A>T
ENST00000698468.1:n.3259A>T
ENST00000698469.1:c.*2115A>T	ENSP00000513743.1:n.*2115A>T
ENST00000698470.1:c.*610A>T	ENSP00000513744.1:n.*610A>T
ENST00000698471.1:n.3058A>T
ENST00000698472.1:c.*1483A>T	ENSP00000513745.1:n.*1483A>T
ENST00000698473.1:n.3058A>T
ENST00000698474.1:n.3058A>T
ENST00000698475.1:n.3143A>T
ENST00000698476.1:c.2518A>T	ENSP00000513746.1:p.Ile840Phe
ENST00000698477.1:c.2444A>T	ENSP00000513747.1:p.Tyr815Phe
ENST00000698478.1:n.3058A>T
ENST00000698479.1:c.2518A>T	ENSP00000513748.1:p.Ile840Phe
ENST00000698480.1:c.2439A>T	ENSP00000513749.1:p.Val813=
ENST00000698481.1:c.2439A>T	ENSP00000513750.1:p.Val813=
ENST00000698482.1:n.2808A>T
ENST00000698483.1:n.2973A>T
ENST00000698484.1:c.2518A>T	ENSP00000513751.1:p.Ile840Phe
ENST00000698485.1:c.2439A>T	ENSP00000513752.1:p.Val813=
ENST00000698486.1:n.3058A>T
ENST00000698487.1:c.2518A>T	ENSP00000513753.1:p.Ile840Phe
ENST00000698488.1:c.2262A>T	ENSP00000513754.1:p.Val754=
ENST00000698489.1:n.6843A>T
ENST00000698490.1:c.2518A>T	ENSP00000513755.1:p.Ile840Phe
ENST00000698492.1:c.*1233A>T	ENSP00000513756.1:n.*1233A>T
ENST00000698493.1:n.2808A>T
ENST00000698494.1:c.*498A>T	ENSP00000513757.1:n.*498A>T
ENST00000358746.7:c.2518A>T MANE Select	ENSP00000351596.3:p.Ile840Phe
ENST00000649566.1:c.2518A>T	ENSP00000497948.1:p.Ile840Phe
ENST00000358746.6:c.2518A>T	ENSP00000351596.2:p.Ile840Phe
ENST00000506007.1:n.185A>T
ENST00000507805.5:n.790A>T
ENST00000508181.5:n.91A>T
NM_014639.3:c.2518A>T , LRG_173t1:c.2518A>T	NP_055454.1:p.Ile840Phe
XR_948312.1:n.2787A>T
XR_001742370.2:n.2790A>T
NM_014639.4:c.2518A>T MANE Select	NP_055454.1:p.Ile840Phe