Canonical Allele Identifier: CA3145435775
Community Standard Title: NM_006979.3(SLC39A7):c.581A= (p.Glu194=)
Gene: SLC39A7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33202072A= , CM000668.2:g.33202072A= GRCh38
NC_000006.11:g.33169849A= , CM000668.1:g.33169849A= GRCh37
NC_000006.10:g.33277827A= NCBI36
NG_023374.1:g.3584T=

Transcript Alleles

HGVS Amino-acid Change
NM_006979.3:c.581A= MANE Select NP_008910.2:p.Glu194=
ENST00000374677.8:c.581A= MANE Select ENSP00000363809.3:p.Glu194=
NM_001077516.1:c.581A= NP_001070984.1:p.Glu194=
NM_001077516.2:c.581A= NP_001070984.1:p.Glu194=
NM_001288777.1:c.206A= NP_001275706.1:p.Glu69=
NM_001288777.2:c.206A= NP_001275706.1:p.Glu69=
NM_006979.2:c.581A= NP_008910.2:p.Glu194=
ENST00000374675.7:c.581A= ENSP00000363807.3:p.Glu194=
ENST00000374677.7:c.581A= ENSP00000363809.3:p.Glu194=
ENST00000444757.5:c.311A= ENSP00000400978.1:p.Glu104=
ENST00000617885.1:c.581A= ENSP00000478192.1:p.Glu194=
ENST00000698677.1:n.1377A=
ENST00000698678.1:n.1493A=
ENST00000698679.1:n.1621A=
ENST00000698680.1:c.580+159A= ENSP00000513871.1:n.580+159A=
ENST00000698681.1:n.1159A=
ENST00000698682.1:n.1001A=
ENST00000698683.1:n.1001A=
ENST00000698684.1:n.1159A=
ENST00000698685.1:n.893A=
ENST00000698686.1:n.795A=
ENST00000698687.1:c.580+159A= ENSP00000513872.1:n.580+159A=
ENST00000698688.1:c.581A= ENSP00000513873.1:p.Glu194=
ENST00000698689.1:n.722A=
ENST00000698690.1:n.257A=