Canonical Allele Identifier: CA380315508

Gene: SLC39A13

Linked Data

• dbSNP Id: rs1428493386
• gnomAD v3: 11-47415325-A-G
• gnomAD v4: 11-47415325-A-G
• MyVariant Identifiers: chr11:g.47436876A>G (hg19) ; chr11:g.47415325A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415325A>G , CM000673.2:g.47415325A>G	GRCh38
NC_000011.9:g.47436876A>G , CM000673.1:g.47436876A>G	GRCh37
NC_000011.8:g.47393452A>G	NCBI36
NG_017073.1:g.11831A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1078A>G MANE Select	ENSP00000354689.4:p.Ile360Val
ENST00000354884.8:c.1057A>G	ENSP00000346956.4:p.Ile353Val
ENST00000362021.8:c.1078A>G	ENSP00000354689.4:p.Ile360Val
ENST00000524886.1:n.336A>G
ENST00000524928.1:c.*1408A>G	ENSP00000437186.1:n.*1408A>G
ENST00000527829.1:n.438A>G
ENST00000533076.5:c.*75A>G	ENSP00000434290.1:n.*75A>G
NM_001128225.2:c.1078A>G	NP_001121697.1:p.Ile360Val
NM_152264.4:c.1057A>G	NP_689477.2:p.Ile353Val
XM_006718381.2:c.1102A>G	XP_006718444.1:p.Ile368Val
XM_006718383.2:c.994A>G	XP_006718446.1:p.Ile332Val
XM_006718384.2:c.*75A>G	XP_006718447.1:n.*75A>G
XM_006718385.2:c.*75A>G	XP_006718448.1:n.*75A>G
XM_011520466.1:c.1123A>G	XP_011518768.1:p.Ile375Val
XM_011520467.1:c.1078A>G	XP_011518769.1:p.Ile360Val
XM_011520468.1:c.1078A>G	XP_011518770.1:p.Ile360Val
XM_011520469.1:c.1015A>G	XP_011518771.1:p.Ile339Val
XM_011520470.1:c.970A>G	XP_011518772.1:p.Ile324Val
XR_242832.1:n.1463A>G
XR_428862.2:n.1138A>G
XR_428863.2:n.1134A>G
XR_930928.1:n.1159A>G
NM_001330245.1:c.*75A>G	NP_001317174.1:n.*75A>G
NR_134854.1:n.1319A>G
XM_006718381.3:c.1102A>G	XP_006718444.1:p.Ile368Val
XM_006718383.3:c.994A>G	XP_006718446.1:p.Ile332Val
XM_011520468.3:c.1078A>G	XP_011518770.1:p.Ile360Val
XM_011520470.2:c.970A>G	XP_011518772.1:p.Ile324Val
XM_017018540.2:c.1057A>G	XP_016874029.1:p.Ile353Val
XM_017018541.2:c.949A>G	XP_016874030.1:p.Ile317Val
XM_024448762.1:c.1207A>G	XP_024304530.1:p.Ile403Val
XR_001748027.1:n.1278A>G
XR_001748028.1:n.1260A>G
XR_428862.3:n.1138A>G
XR_428863.3:n.1134A>G
XR_930928.2:n.1159A>G
NM_001128225.3:c.1078A>G MANE Select	NP_001121697.2:p.Ile360Val
NM_001330245.2:c.*75A>G	NP_001317174.2:n.*75A>G
NM_152264.5:c.1057A>G	NP_689477.3:p.Ile353Val