Canonical Allele Identifier: CA380315265

Gene: SLC39A13

Linked Data

• MyVariant Identifiers: chr11:g.47436709T>C (hg19) ; chr11:g.47415158T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415158T>C , CM000673.2:g.47415158T>C	GRCh38
NC_000011.9:g.47436709T>C , CM000673.1:g.47436709T>C	GRCh37
NC_000011.8:g.47393285T>C	NCBI36
NG_017073.1:g.11664T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1039T>C MANE Select	ENSP00000354689.4:p.Trp347Arg
ENST00000354884.8:c.1018T>C	ENSP00000346956.4:p.Trp340Arg
ENST00000362021.8:c.1039T>C	ENSP00000354689.4:p.Trp347Arg
ENST00000524886.1:n.297T>C
ENST00000524928.1:c.*1241T>C	ENSP00000437186.1:n.*1241T>C
ENST00000527829.1:n.271T>C
ENST00000533076.5:c.*36T>C	ENSP00000434290.1:n.*36T>C
NM_001128225.2:c.1039T>C	NP_001121697.1:p.Trp347Arg
NM_152264.4:c.1018T>C	NP_689477.2:p.Trp340Arg
XM_006718381.2:c.1063T>C	XP_006718444.1:p.Trp355Arg
XM_006718383.2:c.955T>C	XP_006718446.1:p.Trp319Arg
XM_006718384.2:c.*36T>C	XP_006718447.1:n.*36T>C
XM_006718385.2:c.*36T>C	XP_006718448.1:n.*36T>C
XM_011520466.1:c.1084T>C	XP_011518768.1:p.Trp362Arg
XM_011520467.1:c.1039T>C	XP_011518769.1:p.Trp347Arg
XM_011520468.1:c.1039T>C	XP_011518770.1:p.Trp347Arg
XM_011520469.1:c.976T>C	XP_011518771.1:p.Trp326Arg
XM_011520470.1:c.931T>C	XP_011518772.1:p.Trp311Arg
XR_242832.1:n.1424T>C
XR_428862.2:n.1099T>C
XR_428863.2:n.1095T>C
XR_930928.1:n.1120T>C
NM_001330245.1:c.*36T>C	NP_001317174.1:n.*36T>C
NR_134854.1:n.1280T>C
XM_006718381.3:c.1063T>C	XP_006718444.1:p.Trp355Arg
XM_006718383.3:c.955T>C	XP_006718446.1:p.Trp319Arg
XM_011520468.3:c.1039T>C	XP_011518770.1:p.Trp347Arg
XM_011520470.2:c.931T>C	XP_011518772.1:p.Trp311Arg
XM_017018540.2:c.1018T>C	XP_016874029.1:p.Trp340Arg
XM_017018541.2:c.910T>C	XP_016874030.1:p.Trp304Arg
XM_024448762.1:c.1168T>C	XP_024304530.1:p.Trp390Arg
XR_001748027.1:n.1239T>C
XR_001748028.1:n.1221T>C
XR_428862.3:n.1099T>C
XR_428863.3:n.1095T>C
XR_930928.2:n.1120T>C
NM_001128225.3:c.1039T>C MANE Select	NP_001121697.2:p.Trp347Arg
NM_001330245.2:c.*36T>C	NP_001317174.2:n.*36T>C
NM_152264.5:c.1018T>C	NP_689477.3:p.Trp340Arg