Canonical Allele Identifier: CA16606946

Gene: SLC39A13

Linked Data

• ClinVar Variation Id: 391850
• ClinVar RCV Id: RCV000429000
• dbSNP Id: rs1057524263
• gnomAD v2: 11-47436857-G-T
• gnomAD v4: 11-47415306-G-T
• MyVariant Identifiers: chr11:g.47436857G>T (hg19) ; chr11:g.47415306G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415306G>T , CM000673.2:g.47415306G>T	GRCh38
NC_000011.9:g.47436857G>T , CM000673.1:g.47436857G>T	GRCh37
NC_000011.8:g.47393433G>T	NCBI36
NG_017073.1:g.11812G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1059G>T MANE Select	ENSP00000354689.4:p.Leu353=
ENST00000354884.8:c.1038G>T	ENSP00000346956.4:p.Leu346=
ENST00000362021.8:c.1059G>T	ENSP00000354689.4:p.Leu353=
ENST00000524886.1:n.317G>T
ENST00000524928.1:c.*1389G>T	ENSP00000437186.1:n.*1389G>T
ENST00000527829.1:n.419G>T
ENST00000533076.5:c.*56G>T	ENSP00000434290.1:n.*56G>T
NM_001128225.2:c.1059G>T	NP_001121697.1:p.Leu353=
NM_152264.4:c.1038G>T	NP_689477.2:p.Leu346=
XM_006718381.2:c.1083G>T	XP_006718444.1:p.Leu361=
XM_006718383.2:c.975G>T	XP_006718446.1:p.Leu325=
XM_006718384.2:c.*56G>T	XP_006718447.1:n.*56G>T
XM_006718385.2:c.*56G>T	XP_006718448.1:n.*56G>T
XM_011520466.1:c.1104G>T	XP_011518768.1:p.Leu368=
XM_011520467.1:c.1059G>T	XP_011518769.1:p.Leu353=
XM_011520468.1:c.1059G>T	XP_011518770.1:p.Leu353=
XM_011520469.1:c.996G>T	XP_011518771.1:p.Leu332=
XM_011520470.1:c.951G>T	XP_011518772.1:p.Leu317=
XR_242832.1:n.1444G>T
XR_428862.2:n.1119G>T
XR_428863.2:n.1115G>T
XR_930928.1:n.1140G>T
NM_001330245.1:c.*56G>T	NP_001317174.1:n.*56G>T
NR_134854.1:n.1300G>T
XM_006718381.3:c.1083G>T	XP_006718444.1:p.Leu361=
XM_006718383.3:c.975G>T	XP_006718446.1:p.Leu325=
XM_011520468.3:c.1059G>T	XP_011518770.1:p.Leu353=
XM_011520470.2:c.951G>T	XP_011518772.1:p.Leu317=
XM_017018540.2:c.1038G>T	XP_016874029.1:p.Leu346=
XM_017018541.2:c.930G>T	XP_016874030.1:p.Leu310=
XM_024448762.1:c.1188G>T	XP_024304530.1:p.Leu396=
XR_001748027.1:n.1259G>T
XR_001748028.1:n.1241G>T
XR_428862.3:n.1119G>T
XR_428863.3:n.1115G>T
XR_930928.2:n.1140G>T
NM_001128225.3:c.1059G>T MANE Select	NP_001121697.2:p.Leu353=
NM_001330245.2:c.*56G>T	NP_001317174.2:n.*56G>T
NM_152264.5:c.1038G>T	NP_689477.3:p.Leu346=