Canonical Allele Identifier: CA380315390

Gene: SLC39A13

Linked Data

• MyVariant Identifiers: chr11:g.47436850A>T (hg19) ; chr11:g.47415299A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415299A>T , CM000673.2:g.47415299A>T	GRCh38
NC_000011.9:g.47436850A>T , CM000673.1:g.47436850A>T	GRCh37
NC_000011.8:g.47393426A>T	NCBI36
NG_017073.1:g.11805A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1052A>T MANE Select	ENSP00000354689.4:p.Gln351Leu
ENST00000354884.8:c.1031A>T	ENSP00000346956.4:p.Gln344Leu
ENST00000362021.8:c.1052A>T	ENSP00000354689.4:p.Gln351Leu
ENST00000524886.1:n.310A>T
ENST00000524928.1:c.*1382A>T	ENSP00000437186.1:n.*1382A>T
ENST00000527829.1:n.412A>T
ENST00000533076.5:c.*49A>T	ENSP00000434290.1:n.*49A>T
NM_001128225.2:c.1052A>T	NP_001121697.1:p.Gln351Leu
NM_152264.4:c.1031A>T	NP_689477.2:p.Gln344Leu
XM_006718381.2:c.1076A>T	XP_006718444.1:p.Gln359Leu
XM_006718383.2:c.968A>T	XP_006718446.1:p.Gln323Leu
XM_006718384.2:c.*49A>T	XP_006718447.1:n.*49A>T
XM_006718385.2:c.*49A>T	XP_006718448.1:n.*49A>T
XM_011520466.1:c.1097A>T	XP_011518768.1:p.Gln366Leu
XM_011520467.1:c.1052A>T	XP_011518769.1:p.Gln351Leu
XM_011520468.1:c.1052A>T	XP_011518770.1:p.Gln351Leu
XM_011520469.1:c.989A>T	XP_011518771.1:p.Gln330Leu
XM_011520470.1:c.944A>T	XP_011518772.1:p.Gln315Leu
XR_242832.1:n.1437A>T
XR_428862.2:n.1112A>T
XR_428863.2:n.1108A>T
XR_930928.1:n.1133A>T
NM_001330245.1:c.*49A>T	NP_001317174.1:n.*49A>T
NR_134854.1:n.1293A>T
XM_006718381.3:c.1076A>T	XP_006718444.1:p.Gln359Leu
XM_006718383.3:c.968A>T	XP_006718446.1:p.Gln323Leu
XM_011520468.3:c.1052A>T	XP_011518770.1:p.Gln351Leu
XM_011520470.2:c.944A>T	XP_011518772.1:p.Gln315Leu
XM_017018540.2:c.1031A>T	XP_016874029.1:p.Gln344Leu
XM_017018541.2:c.923A>T	XP_016874030.1:p.Gln308Leu
XM_024448762.1:c.1181A>T	XP_024304530.1:p.Gln394Leu
XR_001748027.1:n.1252A>T
XR_001748028.1:n.1234A>T
XR_428862.3:n.1112A>T
XR_428863.3:n.1108A>T
XR_930928.2:n.1133A>T
NM_001128225.3:c.1052A>T MANE Select	NP_001121697.2:p.Gln351Leu
NM_001330245.2:c.*49A>T	NP_001317174.2:n.*49A>T
NM_152264.5:c.1031A>T	NP_689477.3:p.Gln344Leu