Canonical Allele Identifier: CA9937357

Gene: SS18L1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62172726G>A , CM000682.2:g.62172726G>A	GRCh38
NC_000020.10:g.60747782G>A , CM000682.1:g.60747782G>A	GRCh37
NC_000020.9:g.60181177G>A	NCBI36
NG_034255.1:g.34007G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_198935.3:c.961G>A MANE Select	NP_945173.1:p.Ala321Thr
ENST00000331758.8:c.961G>A MANE Select	ENSP00000333012.3:p.Ala321Thr
NM_001301778.1:c.568G>A	NP_001288707.1:p.Ala190Thr
NM_001301778.2:c.568G>A	NP_001288707.1:p.Ala190Thr
NM_198935.2:c.961G>A	NP_945173.1:p.Ala321Thr
NR_125980.1:n.1441G>A
NR_125980.2:n.1392G>A
NR_125980.3:n.1392G>A
NR_125981.1:n.1062G>A
NR_125981.2:n.1013G>A
NR_125981.3:n.1013G>A
ENST00000331758.7:c.961G>A	ENSP00000333012.3:p.Ala321Thr
ENST00000370848.8:c.715G>A	ENSP00000359885.5:p.Ala239Thr
ENST00000492466.2:c.405G>A
XM_005260389.2:c.961G>A	XP_005260446.1:p.Ala321Thr
XM_005260389.3:c.961G>A	XP_005260446.1:p.Ala321Thr
XM_005260391.1:c.895G>A	XP_005260448.1:p.Ala299Thr
XM_011528764.1:c.895G>A	XP_011527066.1:p.Ala299Thr
XM_011528764.2:c.895G>A	XP_011527066.1:p.Ala299Thr
XM_011528765.1:c.895G>A	XP_011527067.1:p.Ala299Thr
XM_011528766.1:c.895G>A	XP_011527068.1:p.Ala299Thr
XM_011528767.1:c.970G>A	XP_011527069.1:p.Ala324Thr
XM_017027784.2:c.892G>A	XP_016883273.1:p.Ala298Thr
XR_001754230.1:n.1852G>A