Canonical Allele Identifier: CA474210457

Gene: SLC39A13

Linked Data

• MyVariant Identifiers: chr11:g.47436860T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415309T>C , CM000673.2:g.47415309T>C	GRCh38
NC_000011.9:g.47436860T>C , CM000673.1:g.47436860T>C	GRCh37
NC_000011.8:g.47393436T>C	NCBI36
NG_017073.1:g.11815T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1062T>C MANE Select	ENSP00000354689.4:p.Leu354=
ENST00000354884.8:c.1041T>C	ENSP00000346956.4:p.Leu347=
ENST00000362021.8:c.1062T>C	ENSP00000354689.4:p.Leu354=
ENST00000524886.1:n.320T>C
ENST00000524928.1:c.*1392T>C	ENSP00000437186.1:n.*1392T>C
ENST00000527829.1:n.422T>C
ENST00000533076.5:c.*59T>C	ENSP00000434290.1:n.*59T>C
NM_001128225.2:c.1062T>C	NP_001121697.1:p.Leu354=
NM_152264.4:c.1041T>C	NP_689477.2:p.Leu347=
XM_006718381.2:c.1086T>C	XP_006718444.1:p.Leu362=
XM_006718383.2:c.978T>C	XP_006718446.1:p.Leu326=
XM_006718384.2:c.*59T>C	XP_006718447.1:n.*59T>C
XM_006718385.2:c.*59T>C	XP_006718448.1:n.*59T>C
XM_011520466.1:c.1107T>C	XP_011518768.1:p.Leu369=
XM_011520467.1:c.1062T>C	XP_011518769.1:p.Leu354=
XM_011520468.1:c.1062T>C	XP_011518770.1:p.Leu354=
XM_011520469.1:c.999T>C	XP_011518771.1:p.Leu333=
XM_011520470.1:c.954T>C	XP_011518772.1:p.Leu318=
XR_242832.1:n.1447T>C
XR_428862.2:n.1122T>C
XR_428863.2:n.1118T>C
XR_930928.1:n.1143T>C
NM_001330245.1:c.*59T>C	NP_001317174.1:n.*59T>C
NR_134854.1:n.1303T>C
XM_006718381.3:c.1086T>C	XP_006718444.1:p.Leu362=
XM_006718383.3:c.978T>C	XP_006718446.1:p.Leu326=
XM_011520468.3:c.1062T>C	XP_011518770.1:p.Leu354=
XM_011520470.2:c.954T>C	XP_011518772.1:p.Leu318=
XM_017018540.2:c.1041T>C	XP_016874029.1:p.Leu347=
XM_017018541.2:c.933T>C	XP_016874030.1:p.Leu311=
XM_024448762.1:c.1191T>C	XP_024304530.1:p.Leu397=
XR_001748027.1:n.1262T>C
XR_001748028.1:n.1244T>C
XR_428862.3:n.1122T>C
XR_428863.3:n.1118T>C
XR_930928.2:n.1143T>C
NM_001128225.3:c.1062T>C MANE Select	NP_001121697.2:p.Leu354=
NM_001330245.2:c.*59T>C	NP_001317174.2:n.*59T>C
NM_152264.5:c.1041T>C	NP_689477.3:p.Leu347=