Canonical Allele Identifier: CA380315103

Gene: SLC39A13

Linked Data

• MyVariant Identifiers: chr11:g.47436679C>A (hg19) ; chr11:g.47415128C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415128C>A , CM000673.2:g.47415128C>A	GRCh38
NC_000011.9:g.47436679C>A , CM000673.1:g.47436679C>A	GRCh37
NC_000011.8:g.47393255C>A	NCBI36
NG_017073.1:g.11634C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1009C>A MANE Select	ENSP00000354689.4:p.Leu337Ile
ENST00000354884.8:c.988C>A	ENSP00000346956.4:p.Leu330Ile
ENST00000362021.8:c.1009C>A	ENSP00000354689.4:p.Leu337Ile
ENST00000524886.1:n.267C>A
ENST00000524928.1:c.*1211C>A	ENSP00000437186.1:n.*1211C>A
ENST00000527829.1:n.241C>A
ENST00000533076.5:c.*6C>A	ENSP00000434290.1:n.*6C>A
NM_001128225.2:c.1009C>A	NP_001121697.1:p.Leu337Ile
NM_152264.4:c.988C>A	NP_689477.2:p.Leu330Ile
XM_006718381.2:c.1033C>A	XP_006718444.1:p.Leu345Ile
XM_006718383.2:c.925C>A	XP_006718446.1:p.Leu309Ile
XM_006718384.2:c.*6C>A	XP_006718447.1:n.*6C>A
XM_006718385.2:c.*6C>A	XP_006718448.1:n.*6C>A
XM_011520466.1:c.1054C>A	XP_011518768.1:p.Leu352Ile
XM_011520467.1:c.1009C>A	XP_011518769.1:p.Leu337Ile
XM_011520468.1:c.1009C>A	XP_011518770.1:p.Leu337Ile
XM_011520469.1:c.946C>A	XP_011518771.1:p.Leu316Ile
XM_011520470.1:c.901C>A	XP_011518772.1:p.Leu301Ile
XR_242832.1:n.1394C>A
XR_428862.2:n.1069C>A
XR_428863.2:n.1065C>A
XR_930928.1:n.1090C>A
NM_001330245.1:c.*6C>A	NP_001317174.1:n.*6C>A
NR_134854.1:n.1250C>A
XM_006718381.3:c.1033C>A	XP_006718444.1:p.Leu345Ile
XM_006718383.3:c.925C>A	XP_006718446.1:p.Leu309Ile
XM_011520468.3:c.1009C>A	XP_011518770.1:p.Leu337Ile
XM_011520470.2:c.901C>A	XP_011518772.1:p.Leu301Ile
XM_017018540.2:c.988C>A	XP_016874029.1:p.Leu330Ile
XM_017018541.2:c.880C>A	XP_016874030.1:p.Leu294Ile
XM_024448762.1:c.1138C>A	XP_024304530.1:p.Leu380Ile
XR_001748027.1:n.1209C>A
XR_001748028.1:n.1191C>A
XR_428862.3:n.1069C>A
XR_428863.3:n.1065C>A
XR_930928.2:n.1090C>A
NM_001128225.3:c.1009C>A MANE Select	NP_001121697.2:p.Leu337Ile
NM_001330245.2:c.*6C>A	NP_001317174.2:n.*6C>A
NM_152264.5:c.988C>A	NP_689477.3:p.Leu330Ile