Canonical Allele Identifier: CA380315446

Gene: SLC39A13

Linked Data

• MyVariant Identifiers: chr11:g.47436864C>A (hg19) ; chr11:g.47415313C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415313C>A , CM000673.2:g.47415313C>A	GRCh38
NC_000011.9:g.47436864C>A , CM000673.1:g.47436864C>A	GRCh37
NC_000011.8:g.47393440C>A	NCBI36
NG_017073.1:g.11819C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1066C>A MANE Select	ENSP00000354689.4:p.Leu356Ile
ENST00000354884.8:c.1045C>A	ENSP00000346956.4:p.Leu349Ile
ENST00000362021.8:c.1066C>A	ENSP00000354689.4:p.Leu356Ile
ENST00000524886.1:n.324C>A
ENST00000524928.1:c.*1396C>A	ENSP00000437186.1:n.*1396C>A
ENST00000527829.1:n.426C>A
ENST00000533076.5:c.*63C>A	ENSP00000434290.1:n.*63C>A
NM_001128225.2:c.1066C>A	NP_001121697.1:p.Leu356Ile
NM_152264.4:c.1045C>A	NP_689477.2:p.Leu349Ile
XM_006718381.2:c.1090C>A	XP_006718444.1:p.Leu364Ile
XM_006718383.2:c.982C>A	XP_006718446.1:p.Leu328Ile
XM_006718384.2:c.*63C>A	XP_006718447.1:n.*63C>A
XM_006718385.2:c.*63C>A	XP_006718448.1:n.*63C>A
XM_011520466.1:c.1111C>A	XP_011518768.1:p.Leu371Ile
XM_011520467.1:c.1066C>A	XP_011518769.1:p.Leu356Ile
XM_011520468.1:c.1066C>A	XP_011518770.1:p.Leu356Ile
XM_011520469.1:c.1003C>A	XP_011518771.1:p.Leu335Ile
XM_011520470.1:c.958C>A	XP_011518772.1:p.Leu320Ile
XR_242832.1:n.1451C>A
XR_428862.2:n.1126C>A
XR_428863.2:n.1122C>A
XR_930928.1:n.1147C>A
NM_001330245.1:c.*63C>A	NP_001317174.1:n.*63C>A
NR_134854.1:n.1307C>A
XM_006718381.3:c.1090C>A	XP_006718444.1:p.Leu364Ile
XM_006718383.3:c.982C>A	XP_006718446.1:p.Leu328Ile
XM_011520468.3:c.1066C>A	XP_011518770.1:p.Leu356Ile
XM_011520470.2:c.958C>A	XP_011518772.1:p.Leu320Ile
XM_017018540.2:c.1045C>A	XP_016874029.1:p.Leu349Ile
XM_017018541.2:c.937C>A	XP_016874030.1:p.Leu313Ile
XM_024448762.1:c.1195C>A	XP_024304530.1:p.Leu399Ile
XR_001748027.1:n.1266C>A
XR_001748028.1:n.1248C>A
XR_428862.3:n.1126C>A
XR_428863.3:n.1122C>A
XR_930928.2:n.1147C>A
NM_001128225.3:c.1066C>A MANE Select	NP_001121697.2:p.Leu356Ile
NM_001330245.2:c.*63C>A	NP_001317174.2:n.*63C>A
NM_152264.5:c.1045C>A	NP_689477.3:p.Leu349Ile