Canonical Allele Identifier: CA474210442

Gene: SLC39A13

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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