Canonical Allele Identifier: CA474210441

Gene: SLC39A13

Linked Data

• MyVariant Identifiers: chr11:g.47436848G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415297G>A , CM000673.2:g.47415297G>A	GRCh38
NC_000011.9:g.47436848G>A , CM000673.1:g.47436848G>A	GRCh37
NC_000011.8:g.47393424G>A	NCBI36
NG_017073.1:g.11803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1050G>A MANE Select	ENSP00000354689.4:p.Leu350=
ENST00000354884.8:c.1029G>A	ENSP00000346956.4:p.Leu343=
ENST00000362021.8:c.1050G>A	ENSP00000354689.4:p.Leu350=
ENST00000524886.1:n.308G>A
ENST00000524928.1:c.*1380G>A	ENSP00000437186.1:n.*1380G>A
ENST00000527829.1:n.410G>A
ENST00000533076.5:c.*47G>A	ENSP00000434290.1:n.*47G>A
NM_001128225.2:c.1050G>A	NP_001121697.1:p.Leu350=
NM_152264.4:c.1029G>A	NP_689477.2:p.Leu343=
XM_006718381.2:c.1074G>A	XP_006718444.1:p.Leu358=
XM_006718383.2:c.966G>A	XP_006718446.1:p.Leu322=
XM_006718384.2:c.*47G>A	XP_006718447.1:n.*47G>A
XM_006718385.2:c.*47G>A	XP_006718448.1:n.*47G>A
XM_011520466.1:c.1095G>A	XP_011518768.1:p.Leu365=
XM_011520467.1:c.1050G>A	XP_011518769.1:p.Leu350=
XM_011520468.1:c.1050G>A	XP_011518770.1:p.Leu350=
XM_011520469.1:c.987G>A	XP_011518771.1:p.Leu329=
XM_011520470.1:c.942G>A	XP_011518772.1:p.Leu314=
XR_242832.1:n.1435G>A
XR_428862.2:n.1110G>A
XR_428863.2:n.1106G>A
XR_930928.1:n.1131G>A
NM_001330245.1:c.*47G>A	NP_001317174.1:n.*47G>A
NR_134854.1:n.1291G>A
XM_006718381.3:c.1074G>A	XP_006718444.1:p.Leu358=
XM_006718383.3:c.966G>A	XP_006718446.1:p.Leu322=
XM_011520468.3:c.1050G>A	XP_011518770.1:p.Leu350=
XM_011520470.2:c.942G>A	XP_011518772.1:p.Leu314=
XM_017018540.2:c.1029G>A	XP_016874029.1:p.Leu343=
XM_017018541.2:c.921G>A	XP_016874030.1:p.Leu307=
XM_024448762.1:c.1179G>A	XP_024304530.1:p.Leu393=
XR_001748027.1:n.1250G>A
XR_001748028.1:n.1232G>A
XR_428862.3:n.1110G>A
XR_428863.3:n.1106G>A
XR_930928.2:n.1131G>A
NM_001128225.3:c.1050G>A MANE Select	NP_001121697.2:p.Leu350=
NM_001330245.2:c.*47G>A	NP_001317174.2:n.*47G>A
NM_152264.5:c.1029G>A	NP_689477.3:p.Leu343=