Canonical Allele Identifier: CA561270264

Gene: SKIC3

Linked Data

• dbSNP Id: rs1317307460
• gnomAD v2: 5-94852195-G-A
• gnomAD v4: 5-95516491-G-A
• MyVariant Identifiers: chr5:g.94852195G>A (hg19) ; chr5:g.95516491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516491G>A , CM000667.2:g.95516491G>A	GRCh38
NC_000005.9:g.94852195G>A , CM000667.1:g.94852195G>A	GRCh37
NC_000005.8:g.94877951G>A	NCBI36
NG_023414.1:g.43515C>T , LRG_173:g.43515C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.3117+34C>T
ENST00000513232.2:c.*1542+34C>T	ENSP00000422749.2:n.*1542+34C>T
ENST00000698450.1:n.1961+34C>T
ENST00000698451.1:n.2247+34C>T
ENST00000698452.1:n.3318+34C>T
ENST00000698453.1:c.2503+34C>T	ENSP00000513735.1:n.2503+34C>T
ENST00000698454.1:c.2568+34C>T	ENSP00000513736.1:n.2568+34C>T
ENST00000698455.1:c.*2803+34C>T	ENSP00000513737.1:n.*2803+34C>T
ENST00000698456.1:c.*1435+34C>T	ENSP00000513738.1:n.*1435+34C>T
ENST00000698457.1:c.2367+34C>T	ENSP00000513739.1:n.2367+34C>T
ENST00000698458.1:c.2539+34C>T	ENSP00000513740.1:n.2539+34C>T
ENST00000698459.1:c.2577+34C>T	ENSP00000513741.1:n.2577+34C>T
ENST00000698460.1:c.*340+34C>T	ENSP00000513742.1:n.*340+34C>T
ENST00000698461.1:n.3032+34C>T
ENST00000698462.1:n.2952+34C>T
ENST00000698468.1:n.3318+34C>T
ENST00000698469.1:c.*2174+34C>T	ENSP00000513743.1:n.*2174+34C>T
ENST00000698470.1:c.*669+34C>T	ENSP00000513744.1:n.*669+34C>T
ENST00000698471.1:n.3117+34C>T
ENST00000698472.1:c.*1542+34C>T	ENSP00000513745.1:n.*1542+34C>T
ENST00000698473.1:n.3117+34C>T
ENST00000698474.1:n.3117+34C>T
ENST00000698475.1:n.3202+34C>T
ENST00000698476.1:c.2577+34C>T	ENSP00000513746.1:n.2577+34C>T
ENST00000698477.1:c.2503+34C>T	ENSP00000513747.1:n.2503+34C>T
ENST00000698478.1:n.3117+34C>T
ENST00000698479.1:c.2577+34C>T	ENSP00000513748.1:n.2577+34C>T
ENST00000698480.1:c.2498+34C>T	ENSP00000513749.1:n.2498+34C>T
ENST00000698481.1:c.2498+34C>T	ENSP00000513750.1:n.2498+34C>T
ENST00000698482.1:n.2867+34C>T
ENST00000698483.1:n.3032+34C>T
ENST00000698484.1:c.2577+34C>T	ENSP00000513751.1:n.2577+34C>T
ENST00000698485.1:c.2498+34C>T	ENSP00000513752.1:n.2498+34C>T
ENST00000698486.1:n.3117+34C>T
ENST00000698487.1:c.2577+34C>T	ENSP00000513753.1:n.2577+34C>T
ENST00000698488.1:c.2321+34C>T	ENSP00000513754.1:n.2321+34C>T
ENST00000698489.1:n.6902+34C>T
ENST00000698490.1:c.2577+34C>T	ENSP00000513755.1:n.2577+34C>T
ENST00000698492.1:c.*1292+34C>T	ENSP00000513756.1:n.*1292+34C>T
ENST00000698493.1:n.2867+34C>T
ENST00000698494.1:c.*557+34C>T	ENSP00000513757.1:n.*557+34C>T
ENST00000358746.7:c.2577+34C>T MANE Select	ENSP00000351596.3:n.2577+34C>T
ENST00000649566.1:c.2577+34C>T	ENSP00000497948.1:n.2577+34C>T
ENST00000358746.6:c.2577+34C>T	ENSP00000351596.2:n.2577+34C>T
ENST00000506007.1:n.244+34C>T
ENST00000507805.5:n.849+34C>T
ENST00000508181.5:n.150+34C>T
NM_014639.3:c.2577+34C>T , LRG_173t1:c.2577+34C>T	NP_055454.1:n.2577+34C>T
XR_948312.1:n.2846+34C>T
XR_001742370.2:n.2849+34C>T
NM_014639.4:c.2577+34C>T MANE Select	NP_055454.1:n.2577+34C>T