Canonical Allele Identifier: CA360457863

Gene: SKIC3

Linked Data

• MyVariant Identifiers: chr5:g.94852279A>C (hg19) ; chr5:g.95516575A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516575A>C , CM000667.2:g.95516575A>C	GRCh38
NC_000005.9:g.94852279A>C , CM000667.1:g.94852279A>C	GRCh37
NC_000005.8:g.94878035A>C	NCBI36
NG_023414.1:g.43431T>G , LRG_173:g.43431T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000506007.2:n.3067T>G
ENST00000513232.2:c.*1492T>G	ENSP00000422749.2:n.*1492T>G
ENST00000698450.1:n.1911T>G
ENST00000698451.1:n.2197T>G
ENST00000698452.1:n.3268T>G
ENST00000698453.1:c.2453T>G	ENSP00000513735.1:p.Leu818Ter
ENST00000698454.1:c.2518T>G	ENSP00000513736.1:p.Tyr840Asp
ENST00000698455.1:c.*2753T>G	ENSP00000513737.1:n.*2753T>G
ENST00000698456.1:c.*1385T>G	ENSP00000513738.1:n.*1385T>G
ENST00000698457.1:c.2317T>G	ENSP00000513739.1:p.Tyr773Asp
ENST00000698458.1:c.2489T>G	ENSP00000513740.1:p.Leu830Ter
ENST00000698459.1:c.2527T>G	ENSP00000513741.1:p.Tyr843Asp
ENST00000698460.1:c.*290T>G	ENSP00000513742.1:n.*290T>G
ENST00000698461.1:n.2982T>G
ENST00000698462.1:n.2902T>G
ENST00000698468.1:n.3268T>G
ENST00000698469.1:c.*2124T>G	ENSP00000513743.1:n.*2124T>G
ENST00000698470.1:c.*619T>G	ENSP00000513744.1:n.*619T>G
ENST00000698471.1:n.3067T>G
ENST00000698472.1:c.*1492T>G	ENSP00000513745.1:n.*1492T>G
ENST00000698473.1:n.3067T>G
ENST00000698474.1:n.3067T>G
ENST00000698475.1:n.3152T>G
ENST00000698476.1:c.2527T>G	ENSP00000513746.1:p.Tyr843Asp
ENST00000698477.1:c.2453T>G	ENSP00000513747.1:p.Leu818Ter
ENST00000698478.1:n.3067T>G
ENST00000698479.1:c.2527T>G	ENSP00000513748.1:p.Tyr843Asp
ENST00000698480.1:c.2448T>G	ENSP00000513749.1:p.Ile816Met
ENST00000698481.1:c.2448T>G	ENSP00000513750.1:p.Ile816Met
ENST00000698482.1:n.2817T>G
ENST00000698483.1:n.2982T>G
ENST00000698484.1:c.2527T>G	ENSP00000513751.1:p.Tyr843Asp
ENST00000698485.1:c.2448T>G	ENSP00000513752.1:p.Ile816Met
ENST00000698486.1:n.3067T>G
ENST00000698487.1:c.2527T>G	ENSP00000513753.1:p.Tyr843Asp
ENST00000698488.1:c.2271T>G	ENSP00000513754.1:p.Ile757Met
ENST00000698489.1:n.6852T>G
ENST00000698490.1:c.2527T>G	ENSP00000513755.1:p.Tyr843Asp
ENST00000698492.1:c.*1242T>G	ENSP00000513756.1:n.*1242T>G
ENST00000698493.1:n.2817T>G
ENST00000698494.1:c.*507T>G	ENSP00000513757.1:n.*507T>G
ENST00000358746.7:c.2527T>G MANE Select	ENSP00000351596.3:p.Tyr843Asp
ENST00000649566.1:c.2527T>G	ENSP00000497948.1:p.Tyr843Asp
ENST00000358746.6:c.2527T>G	ENSP00000351596.2:p.Tyr843Asp
ENST00000506007.1:n.194T>G
ENST00000507805.5:n.799T>G
ENST00000508181.5:n.100T>G
NM_014639.3:c.2527T>G , LRG_173t1:c.2527T>G	NP_055454.1:p.Tyr843Asp
XR_948312.1:n.2796T>G
XR_001742370.2:n.2799T>G
NM_014639.4:c.2527T>G MANE Select	NP_055454.1:p.Tyr843Asp