Canonical Allele Identifier: CA8921128

Gene: SS18

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26087561T>C , CM000680.2:g.26087561T>C	GRCh38
NC_000018.9:g.23667525T>C , CM000680.1:g.23667525T>C	GRCh37
NC_000018.8:g.21921523T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415083.7:c.86A>G MANE Select	ENSP00000414516.2:p.Asn29Ser
ENST00000269137.11:c.86A>G	ENSP00000269137.7:p.Asn29Ser
ENST00000269138.9:c.86A>G	ENSP00000269138.5:p.Asn29Ser
ENST00000415083.6:c.86A>G	ENSP00000414516.2:p.Asn29Ser
ENST00000539244.6:c.69+2940A>G	ENSP00000441760.2:n.69+2940A>G
ENST00000542420.6:c.17A>G	ENSP00000438066.2:p.Asn6Ser
ENST00000577572.5:c.86A>G	ENSP00000463802.1:p.Asn29Ser
ENST00000577636.5:c.17A>G	ENSP00000463933.1:p.Asn6Ser
ENST00000577751.5:n.395A>G
ENST00000578595.1:n.293A>G
ENST00000578700.5:c.17A>G	ENSP00000464673.1:p.Asn6Ser
ENST00000578954.5:c.86A>G	ENSP00000464664.1:p.Asn29Ser
ENST00000579061.5:c.17A>G	ENSP00000462766.1:p.Asn6Ser
ENST00000579640.5:c.86A>G	ENSP00000462363.1:p.Asn29Ser
ENST00000580642.2:c.86A>G	ENSP00000462104.1:p.Asn29Ser
ENST00000580751.5:c.86A>G	ENSP00000464049.1:p.Asn29Ser
ENST00000581021.5:c.17A>G	ENSP00000463586.1:p.Asn6Ser
ENST00000581570.5:c.86A>G	ENSP00000464556.1:p.Asn29Ser
ENST00000582448.5:c.17A>G	ENSP00000464609.1:p.Asn6Ser
ENST00000582792.5:c.86A>G	ENSP00000463928.1:p.Asn29Ser
ENST00000584083.5:c.17A>G	ENSP00000463943.1:p.Asn6Ser
ENST00000585121.5:c.86A>G	ENSP00000462838.1:p.Asn29Ser
ENST00000585241.5:n.142A>G
NM_001007559.1:c.86A>G	NP_001007560.1:p.Asn29Ser
NM_001007559.2:c.86A>G	NP_001007560.1:p.Asn29Ser
NM_001308201.1:c.17A>G	NP_001295130.1:p.Asn6Ser
NM_005637.2:c.86A>G	NP_005628.2:p.Asn29Ser
NM_005637.3:c.86A>G	NP_005628.2:p.Asn29Ser
XM_006722527.1:c.-225A>G	XP_006722590.1:n.-225A>G
XM_011526145.1:c.17A>G	XP_011524447.1:p.Asn6Ser
XM_011526146.1:c.17A>G	XP_011524448.1:p.Asn6Ser
XM_011526147.1:c.-361A>G	XP_011524449.1:n.-361A>G
XM_011526148.1:c.-331A>G	XP_011524450.1:n.-331A>G
XM_011526149.1:c.-356A>G	XP_011524451.1:n.-356A>G
XM_011526150.1:c.-237A>G	XP_011524452.1:n.-237A>G
XM_011526151.1:c.-373A>G	XP_011524453.1:n.-373A>G
XM_011526152.1:c.-237A>G	XP_011524454.1:n.-237A>G
XM_006722527.2:c.-225A>G	XP_006722590.1:n.-225A>G
XM_011526147.2:c.-361A>G	XP_011524449.1:n.-361A>G
XM_011526148.2:c.-331A>G	XP_011524450.1:n.-331A>G
XM_011526149.2:c.-356A>G	XP_011524451.1:n.-356A>G
XM_011526150.2:c.-237A>G	XP_011524452.1:n.-237A>G
XM_011526151.2:c.-373A>G	XP_011524453.1:n.-373A>G
XM_011526152.2:c.-237A>G	XP_011524454.1:n.-237A>G
NM_001007559.3:c.86A>G MANE Select	NP_001007560.1:p.Asn29Ser
NM_001308201.2:c.17A>G	NP_001295130.1:p.Asn6Ser
NM_005637.4:c.86A>G	NP_005628.2:p.Asn29Ser