Canonical Allele Identifier: CA380315114

Gene: SLC39A13

Linked Data

• ClinVar Variation Id: 1360043
• ClinVar RCV Id: RCV001872400
• dbSNP Id: rs2153301868
• MyVariant Identifiers: chr11:g.47436680T>C (hg19) ; chr11:g.47415129T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415129T>C , CM000673.2:g.47415129T>C	GRCh38
NC_000011.9:g.47436680T>C , CM000673.1:g.47436680T>C	GRCh37
NC_000011.8:g.47393256T>C	NCBI36
NG_017073.1:g.11635T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1010T>C MANE Select	ENSP00000354689.4:p.Leu337Pro
ENST00000354884.8:c.989T>C	ENSP00000346956.4:p.Leu330Pro
ENST00000362021.8:c.1010T>C	ENSP00000354689.4:p.Leu337Pro
ENST00000524886.1:n.268T>C
ENST00000524928.1:c.*1212T>C	ENSP00000437186.1:n.*1212T>C
ENST00000527829.1:n.242T>C
ENST00000533076.5:c.*7T>C	ENSP00000434290.1:n.*7T>C
NM_001128225.2:c.1010T>C	NP_001121697.1:p.Leu337Pro
NM_152264.4:c.989T>C	NP_689477.2:p.Leu330Pro
XM_006718381.2:c.1034T>C	XP_006718444.1:p.Leu345Pro
XM_006718383.2:c.926T>C	XP_006718446.1:p.Leu309Pro
XM_006718384.2:c.*7T>C	XP_006718447.1:n.*7T>C
XM_006718385.2:c.*7T>C	XP_006718448.1:n.*7T>C
XM_011520466.1:c.1055T>C	XP_011518768.1:p.Leu352Pro
XM_011520467.1:c.1010T>C	XP_011518769.1:p.Leu337Pro
XM_011520468.1:c.1010T>C	XP_011518770.1:p.Leu337Pro
XM_011520469.1:c.947T>C	XP_011518771.1:p.Leu316Pro
XM_011520470.1:c.902T>C	XP_011518772.1:p.Leu301Pro
XR_242832.1:n.1395T>C
XR_428862.2:n.1070T>C
XR_428863.2:n.1066T>C
XR_930928.1:n.1091T>C
NM_001330245.1:c.*7T>C	NP_001317174.1:n.*7T>C
NR_134854.1:n.1251T>C
XM_006718381.3:c.1034T>C	XP_006718444.1:p.Leu345Pro
XM_006718383.3:c.926T>C	XP_006718446.1:p.Leu309Pro
XM_011520468.3:c.1010T>C	XP_011518770.1:p.Leu337Pro
XM_011520470.2:c.902T>C	XP_011518772.1:p.Leu301Pro
XM_017018540.2:c.989T>C	XP_016874029.1:p.Leu330Pro
XM_017018541.2:c.881T>C	XP_016874030.1:p.Leu294Pro
XM_024448762.1:c.1139T>C	XP_024304530.1:p.Leu380Pro
XR_001748027.1:n.1210T>C
XR_001748028.1:n.1192T>C
XR_428862.3:n.1070T>C
XR_428863.3:n.1066T>C
XR_930928.2:n.1091T>C
NM_001128225.3:c.1010T>C MANE Select	NP_001121697.2:p.Leu337Pro
NM_001330245.2:c.*7T>C	NP_001317174.2:n.*7T>C
NM_152264.5:c.989T>C	NP_689477.3:p.Leu330Pro