Canonical Allele Identifier: CA3729324

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31962031C>T , CM000668.2:g.31962031C>T	GRCh38
NC_000006.11:g.31929808C>T , CM000668.1:g.31929808C>T	GRCh37
NC_000006.10:g.32037787C>T	NCBI36
NG_032652.1:g.8228C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006929.5:c.1041C>T MANE Select	NP_008860.4:p.Ala347=
ENST00000375394.7:c.1041C>T MANE Select	ENSP00000364543.2:p.Ala347=
NM_006929.4:c.1041C>T	NP_008860.4:p.Ala347=
ENST00000375394.6:c.1041C>T	ENSP00000364543.2:p.Ala347=
ENST00000461073.5:c.*157C>T	ENSP00000419905.1:n.*157C>T
ENST00000461073.6:c.*157C>T	ENSP00000419905.1:n.*157C>T
ENST00000465703.5:n.1354C>T
ENST00000466290.1:n.302C>T
ENST00000474839.5:c.*413C>T	ENSP00000420470.1:n.*413C>T
ENST00000483553.6:c.1041C>T	ENSP00000420332.2:p.Ala347=
ENST00000485349.6:n.1082C>T
ENST00000491994.2:c.1041C>T	ENSP00000417586.2:p.Ala347=
ENST00000494058.6:n.1098C>T
ENST00000697831.1:c.1041C>T	ENSP00000513453.1:p.Ala347=
ENST00000697832.1:n.1117C>T
ENST00000697833.1:c.1041C>T	ENSP00000513454.1:p.Ala347=
ENST00000697834.1:n.1093C>T
ENST00000697835.1:c.*559C>T	ENSP00000513455.1:n.*559C>T
ENST00000697836.1:n.1077C>T
ENST00000697837.1:c.1041C>T	ENSP00000513456.1:p.Ala347=
ENST00000697838.1:c.906C>T	ENSP00000513457.1:p.Ala302=
ENST00000697839.1:n.1324C>T
ENST00000697840.1:c.1077C>T	ENSP00000513458.1:p.Ala359=
ENST00000697841.1:n.1613C>T
ENST00000697842.1:n.1041C>T
XM_006715168.2:c.1041C>T	XP_006715231.1:p.Ala347=
XM_011514815.1:c.1041C>T	XP_011513117.1:p.Ala347=
XM_011514815.3:c.1041C>T	XP_011513117.1:p.Ala347=
XR_001743586.2:n.1077C>T
XR_926301.1:n.1129C>T
XR_926301.3:n.1077C>T