Canonical Allele Identifier: CA122852310

Gene: SKIC3

Linked Data

• dbSNP Id: rs887965078
• gnomAD v2: 5-94852230-A-G
• gnomAD v3: 5-95516526-A-G
• gnomAD v4: 5-95516526-A-G
• MyVariant Identifiers: chr5:g.94852230A>G (hg19) ; chr5:g.95516526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516526A>G , CM000667.2:g.95516526A>G	GRCh38
NC_000005.9:g.94852230A>G , CM000667.1:g.94852230A>G	GRCh37
NC_000005.8:g.94877986A>G	NCBI36
NG_023414.1:g.43480T>C , LRG_173:g.43480T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.3116T>C
ENST00000513232.2:c.*1541T>C	ENSP00000422749.2:n.*1541T>C
ENST00000698450.1:n.1960T>C
ENST00000698451.1:n.2246T>C
ENST00000698452.1:n.3317T>C
ENST00000698453.1:c.2502T>C	ENSP00000513735.1:p.Asn834=
ENST00000698454.1:c.2567T>C	ENSP00000513736.1:p.Ile856Thr
ENST00000698455.1:c.*2802T>C	ENSP00000513737.1:n.*2802T>C
ENST00000698456.1:c.*1434T>C	ENSP00000513738.1:n.*1434T>C
ENST00000698457.1:c.2366T>C	ENSP00000513739.1:p.Ile789Thr
ENST00000698458.1:c.2538T>C	ENSP00000513740.1:p.Asn846=
ENST00000698459.1:c.2576T>C	ENSP00000513741.1:p.Ile859Thr
ENST00000698460.1:c.*339T>C	ENSP00000513742.1:n.*339T>C
ENST00000698461.1:n.3031T>C
ENST00000698462.1:n.2951T>C
ENST00000698468.1:n.3317T>C
ENST00000698469.1:c.*2173T>C	ENSP00000513743.1:n.*2173T>C
ENST00000698470.1:c.*668T>C	ENSP00000513744.1:n.*668T>C
ENST00000698471.1:n.3116T>C
ENST00000698472.1:c.*1541T>C	ENSP00000513745.1:n.*1541T>C
ENST00000698473.1:n.3116T>C
ENST00000698474.1:n.3116T>C
ENST00000698475.1:n.3201T>C
ENST00000698476.1:c.2576T>C	ENSP00000513746.1:p.Ile859Thr
ENST00000698477.1:c.2502T>C	ENSP00000513747.1:p.Asn834=
ENST00000698478.1:n.3116T>C
ENST00000698479.1:c.2576T>C	ENSP00000513748.1:p.Ile859Thr
ENST00000698480.1:c.2497T>C	ENSP00000513749.1:p.Leu833=
ENST00000698481.1:c.2497T>C	ENSP00000513750.1:p.Leu833=
ENST00000698482.1:n.2866T>C
ENST00000698483.1:n.3031T>C
ENST00000698484.1:c.2576T>C	ENSP00000513751.1:p.Ile859Thr
ENST00000698485.1:c.2497T>C	ENSP00000513752.1:p.Leu833=
ENST00000698486.1:n.3116T>C
ENST00000698487.1:c.2576T>C	ENSP00000513753.1:p.Ile859Thr
ENST00000698488.1:c.2320T>C	ENSP00000513754.1:p.Leu774=
ENST00000698489.1:n.6901T>C
ENST00000698490.1:c.2576T>C	ENSP00000513755.1:p.Ile859Thr
ENST00000698492.1:c.*1291T>C	ENSP00000513756.1:n.*1291T>C
ENST00000698493.1:n.2866T>C
ENST00000698494.1:c.*556T>C	ENSP00000513757.1:n.*556T>C
ENST00000358746.7:c.2576T>C MANE Select	ENSP00000351596.3:p.Ile859Thr
ENST00000649566.1:c.2576T>C	ENSP00000497948.1:p.Ile859Thr
ENST00000358746.6:c.2576T>C	ENSP00000351596.2:p.Ile859Thr
ENST00000506007.1:n.243T>C
ENST00000507805.5:n.848T>C
ENST00000508181.5:n.149T>C
NM_014639.3:c.2576T>C , LRG_173t1:c.2576T>C	NP_055454.1:p.Ile859Thr
XR_948312.1:n.2845T>C
XR_001742370.2:n.2848T>C
NM_014639.4:c.2576T>C MANE Select	NP_055454.1:p.Ile859Thr