Canonical Allele Identifier: CA380315379

Gene: SLC39A13

Linked Data

• MyVariant Identifiers: chr11:g.47436849C>G (hg19) ; chr11:g.47415298C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415298C>G , CM000673.2:g.47415298C>G	GRCh38
NC_000011.9:g.47436849C>G , CM000673.1:g.47436849C>G	GRCh37
NC_000011.8:g.47393425C>G	NCBI36
NG_017073.1:g.11804C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1051C>G MANE Select	ENSP00000354689.4:p.Gln351Glu
ENST00000354884.8:c.1030C>G	ENSP00000346956.4:p.Gln344Glu
ENST00000362021.8:c.1051C>G	ENSP00000354689.4:p.Gln351Glu
ENST00000524886.1:n.309C>G
ENST00000524928.1:c.*1381C>G	ENSP00000437186.1:n.*1381C>G
ENST00000527829.1:n.411C>G
ENST00000533076.5:c.*48C>G	ENSP00000434290.1:n.*48C>G
NM_001128225.2:c.1051C>G	NP_001121697.1:p.Gln351Glu
NM_152264.4:c.1030C>G	NP_689477.2:p.Gln344Glu
XM_006718381.2:c.1075C>G	XP_006718444.1:p.Gln359Glu
XM_006718383.2:c.967C>G	XP_006718446.1:p.Gln323Glu
XM_006718384.2:c.*48C>G	XP_006718447.1:n.*48C>G
XM_006718385.2:c.*48C>G	XP_006718448.1:n.*48C>G
XM_011520466.1:c.1096C>G	XP_011518768.1:p.Gln366Glu
XM_011520467.1:c.1051C>G	XP_011518769.1:p.Gln351Glu
XM_011520468.1:c.1051C>G	XP_011518770.1:p.Gln351Glu
XM_011520469.1:c.988C>G	XP_011518771.1:p.Gln330Glu
XM_011520470.1:c.943C>G	XP_011518772.1:p.Gln315Glu
XR_242832.1:n.1436C>G
XR_428862.2:n.1111C>G
XR_428863.2:n.1107C>G
XR_930928.1:n.1132C>G
NM_001330245.1:c.*48C>G	NP_001317174.1:n.*48C>G
NR_134854.1:n.1292C>G
XM_006718381.3:c.1075C>G	XP_006718444.1:p.Gln359Glu
XM_006718383.3:c.967C>G	XP_006718446.1:p.Gln323Glu
XM_011520468.3:c.1051C>G	XP_011518770.1:p.Gln351Glu
XM_011520470.2:c.943C>G	XP_011518772.1:p.Gln315Glu
XM_017018540.2:c.1030C>G	XP_016874029.1:p.Gln344Glu
XM_017018541.2:c.922C>G	XP_016874030.1:p.Gln308Glu
XM_024448762.1:c.1180C>G	XP_024304530.1:p.Gln394Glu
XR_001748027.1:n.1251C>G
XR_001748028.1:n.1233C>G
XR_428862.3:n.1111C>G
XR_428863.3:n.1107C>G
XR_930928.2:n.1132C>G
NM_001128225.3:c.1051C>G MANE Select	NP_001121697.2:p.Gln351Glu
NM_001330245.2:c.*48C>G	NP_001317174.2:n.*48C>G
NM_152264.5:c.1030C>G	NP_689477.3:p.Gln344Glu