Canonical Allele Identifier: CA360458209

Gene: SKIC3

Linked Data

• gnomAD v4: 5-95516708-A-G
• MyVariant Identifiers: chr5:g.94852412A>G (hg19) ; chr5:g.95516708A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.95516708A>G , CM000667.2:g.95516708A>G	GRCh38
NC_000005.9:g.94852412A>G , CM000667.1:g.94852412A>G	GRCh37
NC_000005.8:g.94878168A>G	NCBI36
NG_023414.1:g.43298T>C , LRG_173:g.43298T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506007.2:n.2934T>C
ENST00000513232.2:c.*1359T>C	ENSP00000422749.2:n.*1359T>C
ENST00000698450.1:n.1863T>C
ENST00000698451.1:n.2064T>C
ENST00000698452.1:n.3135T>C
ENST00000698453.1:c.2442-122T>C	ENSP00000513735.1:n.2442-122T>C
ENST00000698454.1:c.2470T>C	ENSP00000513736.1:p.Tyr824His
ENST00000698455.1:c.*2620T>C	ENSP00000513737.1:n.*2620T>C
ENST00000698456.1:c.*1337T>C	ENSP00000513738.1:n.*1337T>C
ENST00000698457.1:c.2269T>C	ENSP00000513739.1:p.Tyr757His
ENST00000698458.1:c.2478-122T>C	ENSP00000513740.1:n.2478-122T>C
ENST00000698459.1:c.2479T>C	ENSP00000513741.1:p.Tyr827His
ENST00000698460.1:c.*279-122T>C	ENSP00000513742.1:n.*279-122T>C
ENST00000698461.1:n.2934T>C
ENST00000698462.1:n.2854T>C
ENST00000698468.1:n.3135T>C
ENST00000698469.1:c.*1991T>C	ENSP00000513743.1:n.*1991T>C
ENST00000698470.1:c.*486T>C	ENSP00000513744.1:n.*486T>C
ENST00000698471.1:n.2934T>C
ENST00000698472.1:c.*1359T>C	ENSP00000513745.1:n.*1359T>C
ENST00000698473.1:n.2934T>C
ENST00000698474.1:n.2934T>C
ENST00000698475.1:n.3019T>C
ENST00000698476.1:c.2479T>C	ENSP00000513746.1:p.Tyr827His
ENST00000698477.1:c.2442-122T>C	ENSP00000513747.1:n.2442-122T>C
ENST00000698478.1:n.2934T>C
ENST00000698479.1:c.2479T>C	ENSP00000513748.1:p.Tyr827His
ENST00000698480.1:c.2437-122T>C	ENSP00000513749.1:n.2437-122T>C
ENST00000698481.1:c.2437-122T>C	ENSP00000513750.1:n.2437-122T>C
ENST00000698482.1:n.2769T>C
ENST00000698483.1:n.2934T>C
ENST00000698484.1:c.2479T>C	ENSP00000513751.1:p.Tyr827His
ENST00000698485.1:c.2437-122T>C	ENSP00000513752.1:n.2437-122T>C
ENST00000698486.1:n.2934T>C
ENST00000698487.1:c.2479T>C	ENSP00000513753.1:p.Tyr827His
ENST00000698488.1:c.2260-122T>C	ENSP00000513754.1:n.2260-122T>C
ENST00000698489.1:n.6719T>C
ENST00000698490.1:c.2479T>C	ENSP00000513755.1:p.Tyr827His
ENST00000698492.1:c.*1194T>C	ENSP00000513756.1:n.*1194T>C
ENST00000698493.1:n.2769T>C
ENST00000698494.1:c.*374T>C	ENSP00000513757.1:n.*374T>C
ENST00000358746.7:c.2479T>C MANE Select	ENSP00000351596.3:p.Tyr827His
ENST00000649566.1:c.2479T>C	ENSP00000497948.1:p.Tyr827His
ENST00000358746.6:c.2479T>C	ENSP00000351596.2:p.Tyr827His
ENST00000506007.1:n.61T>C
ENST00000507805.5:n.666T>C
NM_014639.3:c.2479T>C , LRG_173t1:c.2479T>C	NP_055454.1:p.Tyr827His
XR_948312.1:n.2748T>C
XR_001742370.2:n.2751T>C
NM_014639.4:c.2479T>C MANE Select	NP_055454.1:p.Tyr827His