Canonical Allele Identifier: CA380315205

Gene: SLC39A13

Linked Data

• MyVariant Identifiers: chr11:g.47436697G>A (hg19) ; chr11:g.47415146G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415146G>A , CM000673.2:g.47415146G>A	GRCh38
NC_000011.9:g.47436697G>A , CM000673.1:g.47436697G>A	GRCh37
NC_000011.8:g.47393273G>A	NCBI36
NG_017073.1:g.11652G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1027G>A MANE Select	ENSP00000354689.4:p.Glu343Lys
ENST00000354884.8:c.1006G>A	ENSP00000346956.4:p.Glu336Lys
ENST00000362021.8:c.1027G>A	ENSP00000354689.4:p.Glu343Lys
ENST00000524886.1:n.285G>A
ENST00000524928.1:c.*1229G>A	ENSP00000437186.1:n.*1229G>A
ENST00000527829.1:n.259G>A
ENST00000533076.5:c.*24G>A	ENSP00000434290.1:n.*24G>A
NM_001128225.2:c.1027G>A	NP_001121697.1:p.Glu343Lys
NM_152264.4:c.1006G>A	NP_689477.2:p.Glu336Lys
XM_006718381.2:c.1051G>A	XP_006718444.1:p.Glu351Lys
XM_006718383.2:c.943G>A	XP_006718446.1:p.Glu315Lys
XM_006718384.2:c.*24G>A	XP_006718447.1:n.*24G>A
XM_006718385.2:c.*24G>A	XP_006718448.1:n.*24G>A
XM_011520466.1:c.1072G>A	XP_011518768.1:p.Glu358Lys
XM_011520467.1:c.1027G>A	XP_011518769.1:p.Glu343Lys
XM_011520468.1:c.1027G>A	XP_011518770.1:p.Glu343Lys
XM_011520469.1:c.964G>A	XP_011518771.1:p.Glu322Lys
XM_011520470.1:c.919G>A	XP_011518772.1:p.Glu307Lys
XR_242832.1:n.1412G>A
XR_428862.2:n.1087G>A
XR_428863.2:n.1083G>A
XR_930928.1:n.1108G>A
NM_001330245.1:c.*24G>A	NP_001317174.1:n.*24G>A
NR_134854.1:n.1268G>A
XM_006718381.3:c.1051G>A	XP_006718444.1:p.Glu351Lys
XM_006718383.3:c.943G>A	XP_006718446.1:p.Glu315Lys
XM_011520468.3:c.1027G>A	XP_011518770.1:p.Glu343Lys
XM_011520470.2:c.919G>A	XP_011518772.1:p.Glu307Lys
XM_017018540.2:c.1006G>A	XP_016874029.1:p.Glu336Lys
XM_017018541.2:c.898G>A	XP_016874030.1:p.Glu300Lys
XM_024448762.1:c.1156G>A	XP_024304530.1:p.Glu386Lys
XR_001748027.1:n.1227G>A
XR_001748028.1:n.1209G>A
XR_428862.3:n.1087G>A
XR_428863.3:n.1083G>A
XR_930928.2:n.1108G>A
NM_001128225.3:c.1027G>A MANE Select	NP_001121697.2:p.Glu343Lys
NM_001330245.2:c.*24G>A	NP_001317174.2:n.*24G>A
NM_152264.5:c.1006G>A	NP_689477.3:p.Glu336Lys