Canonical Allele Identifier: CA380314382

Gene: SLC39A13

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47414865T>G , CM000673.2:g.47414865T>G	GRCh38
NC_000011.9:g.47436416T>G , CM000673.1:g.47436416T>G	GRCh37
NC_000011.8:g.47392992T>G	NCBI36
NG_017073.1:g.11371T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001128225.3:c.875T>G MANE Select	NP_001121697.2:p.Leu292Arg
ENST00000362021.9:c.875T>G MANE Select	ENSP00000354689.4:p.Leu292Arg
NM_001128225.2:c.875T>G	NP_001121697.1:p.Leu292Arg
NM_001330245.1:c.875T>G	NP_001317174.1:p.Leu292Arg
NM_001330245.2:c.875T>G	NP_001317174.2:p.Leu292Arg
NM_152264.4:c.875T>G	NP_689477.2:p.Leu292Arg
NM_152264.5:c.875T>G	NP_689477.3:p.Leu292Arg
NR_134854.1:n.1141T>G
ENST00000354884.8:c.875T>G	ENSP00000346956.4:p.Leu292Arg
ENST00000362021.8:c.875T>G	ENSP00000354689.4:p.Leu292Arg
ENST00000524886.1:n.4T>G
ENST00000524928.1:c.*948T>G	ENSP00000437186.1:n.*948T>G
ENST00000527829.1:n.128T>G
ENST00000528979.1:n.269T>G
ENST00000531865.5:c.767T>G	ENSP00000434684.1:p.Leu256Arg
ENST00000533076.5:c.875T>G	ENSP00000434290.1:p.Leu292Arg
XM_006718381.2:c.920T>G	XP_006718444.1:p.Leu307Arg
XM_006718381.3:c.920T>G	XP_006718444.1:p.Leu307Arg
XM_006718383.2:c.812T>G	XP_006718446.1:p.Leu271Arg
XM_006718383.3:c.812T>G	XP_006718446.1:p.Leu271Arg
XM_006718384.2:c.920T>G	XP_006718447.1:p.Leu307Arg
XM_006718385.2:c.812T>G	XP_006718448.1:p.Leu271Arg
XM_011520466.1:c.920T>G	XP_011518768.1:p.Leu307Arg
XM_011520467.1:c.875T>G	XP_011518769.1:p.Leu292Arg
XM_011520468.1:c.875T>G	XP_011518770.1:p.Leu292Arg
XM_011520468.3:c.875T>G	XP_011518770.1:p.Leu292Arg
XM_011520469.1:c.812T>G	XP_011518771.1:p.Leu271Arg
XM_011520470.1:c.767T>G	XP_011518772.1:p.Leu256Arg
XM_011520470.2:c.767T>G	XP_011518772.1:p.Leu256Arg
XM_011520471.1:c.*127T>G	XP_011518773.1:n.*127T>G
XM_011520472.1:c.*127T>G	XP_011518774.1:n.*127T>G
XM_017018540.2:c.875T>G	XP_016874029.1:p.Leu292Arg
XM_017018541.2:c.767T>G	XP_016874030.1:p.Leu256Arg
XM_024448762.1:c.875T>G	XP_024304530.1:p.Leu292Arg
XR_001748027.1:n.1096T>G
XR_001748028.1:n.1078T>G
XR_242832.1:n.1285T>G
XR_428862.2:n.956T>G
XR_428862.3:n.956T>G
XR_428863.2:n.956T>G
XR_428863.3:n.956T>G
XR_930928.1:n.956T>G
XR_930928.2:n.956T>G