Canonical Allele Identifier: CA3499129

Gene: SH3TC2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027964C>T , CM000667.2:g.149027964C>T	GRCh38
NC_000005.9:g.148407527C>T , CM000667.1:g.148407527C>T	GRCh37
NC_000005.8:g.148387720C>T	NCBI36
NG_007947.2:g.40211G>A , LRG_269:g.40211G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024577.4:c.1768G>A MANE Select	NP_078853.2:p.Ala590Thr
ENST00000515425.6:c.1768G>A MANE Select	ENSP00000423660.1:p.Ala590Thr
NM_024577.3:c.1768G>A , LRG_269t1:c.1768G>A	NP_078853.2:p.Ala590Thr
ENST00000323829.9:c.*1156G>A	ENSP00000313025.5:n.*1156G>A
ENST00000502274.2:c.1664G>A
ENST00000504517.5:c.1298G>A	ENSP00000421779.1:n.1298G>A
ENST00000504690.5:c.1768G>A	ENSP00000425627.1:p.Ala590Thr
ENST00000510779.1:c.818G>A
ENST00000511307.5:c.*1548G>A	ENSP00000421420.1:n.*1548G>A
ENST00000512049.5:c.1747G>A	ENSP00000421860.1:p.Ala583Thr
ENST00000513604.5:c.*1156G>A	ENSP00000423111.1:n.*1156G>A
ENST00000515425.5:c.1768G>A	ENSP00000423660.1:p.Ala590Thr
ENST00000675793.1:c.*1052G>A	ENSP00000502039.1:n.*1052G>A
ENST00000676056.1:c.*1278G>A	ENSP00000501827.1:n.*1278G>A