Canonical Allele Identifier: CA380315366

Gene: SLC39A13

Linked Data

• MyVariant Identifiers: chr11:g.47436846C>G (hg19) ; chr11:g.47415295C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415295C>G , CM000673.2:g.47415295C>G	GRCh38
NC_000011.9:g.47436846C>G , CM000673.1:g.47436846C>G	GRCh37
NC_000011.8:g.47393422C>G	NCBI36
NG_017073.1:g.11801C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1048C>G MANE Select	ENSP00000354689.4:p.Leu350Val
ENST00000354884.8:c.1027C>G	ENSP00000346956.4:p.Leu343Val
ENST00000362021.8:c.1048C>G	ENSP00000354689.4:p.Leu350Val
ENST00000524886.1:n.306C>G
ENST00000524928.1:c.*1378C>G	ENSP00000437186.1:n.*1378C>G
ENST00000527829.1:n.408C>G
ENST00000533076.5:c.*45C>G	ENSP00000434290.1:n.*45C>G
NM_001128225.2:c.1048C>G	NP_001121697.1:p.Leu350Val
NM_152264.4:c.1027C>G	NP_689477.2:p.Leu343Val
XM_006718381.2:c.1072C>G	XP_006718444.1:p.Leu358Val
XM_006718383.2:c.964C>G	XP_006718446.1:p.Leu322Val
XM_006718384.2:c.*45C>G	XP_006718447.1:n.*45C>G
XM_006718385.2:c.*45C>G	XP_006718448.1:n.*45C>G
XM_011520466.1:c.1093C>G	XP_011518768.1:p.Leu365Val
XM_011520467.1:c.1048C>G	XP_011518769.1:p.Leu350Val
XM_011520468.1:c.1048C>G	XP_011518770.1:p.Leu350Val
XM_011520469.1:c.985C>G	XP_011518771.1:p.Leu329Val
XM_011520470.1:c.940C>G	XP_011518772.1:p.Leu314Val
XR_242832.1:n.1433C>G
XR_428862.2:n.1108C>G
XR_428863.2:n.1104C>G
XR_930928.1:n.1129C>G
NM_001330245.1:c.*45C>G	NP_001317174.1:n.*45C>G
NR_134854.1:n.1289C>G
XM_006718381.3:c.1072C>G	XP_006718444.1:p.Leu358Val
XM_006718383.3:c.964C>G	XP_006718446.1:p.Leu322Val
XM_011520468.3:c.1048C>G	XP_011518770.1:p.Leu350Val
XM_011520470.2:c.940C>G	XP_011518772.1:p.Leu314Val
XM_017018540.2:c.1027C>G	XP_016874029.1:p.Leu343Val
XM_017018541.2:c.919C>G	XP_016874030.1:p.Leu307Val
XM_024448762.1:c.1177C>G	XP_024304530.1:p.Leu393Val
XR_001748027.1:n.1248C>G
XR_001748028.1:n.1230C>G
XR_428862.3:n.1108C>G
XR_428863.3:n.1104C>G
XR_930928.2:n.1129C>G
NM_001128225.3:c.1048C>G MANE Select	NP_001121697.2:p.Leu350Val
NM_001330245.2:c.*45C>G	NP_001317174.2:n.*45C>G
NM_152264.5:c.1027C>G	NP_689477.3:p.Leu343Val