Canonical Allele Identifier: CA221691727

Gene: SLC39A13

Linked Data

• dbSNP Id: rs780145525
• gnomAD v2: 11-47436879-G-T
• gnomAD v4: 11-47415328-G-T
• MyVariant Identifiers: chr11:g.47436879G>T (hg19) ; chr11:g.47415328G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415328G>T , CM000673.2:g.47415328G>T	GRCh38
NC_000011.9:g.47436879G>T , CM000673.1:g.47436879G>T	GRCh37
NC_000011.8:g.47393455G>T	NCBI36
NG_017073.1:g.11834G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1081G>T MANE Select	ENSP00000354689.4:p.Val361Leu
ENST00000354884.8:c.1060G>T	ENSP00000346956.4:p.Val354Leu
ENST00000362021.8:c.1081G>T	ENSP00000354689.4:p.Val361Leu
ENST00000524886.1:n.339G>T
ENST00000524928.1:c.*1411G>T	ENSP00000437186.1:n.*1411G>T
ENST00000527829.1:n.441G>T
ENST00000533076.5:c.*78G>T	ENSP00000434290.1:n.*78G>T
NM_001128225.2:c.1081G>T	NP_001121697.1:p.Val361Leu
NM_152264.4:c.1060G>T	NP_689477.2:p.Val354Leu
XM_006718381.2:c.1105G>T	XP_006718444.1:p.Val369Leu
XM_006718383.2:c.997G>T	XP_006718446.1:p.Val333Leu
XM_006718384.2:c.*78G>T	XP_006718447.1:n.*78G>T
XM_006718385.2:c.*78G>T	XP_006718448.1:n.*78G>T
XM_011520466.1:c.1126G>T	XP_011518768.1:p.Val376Leu
XM_011520467.1:c.1081G>T	XP_011518769.1:p.Val361Leu
XM_011520468.1:c.1081G>T	XP_011518770.1:p.Val361Leu
XM_011520469.1:c.1018G>T	XP_011518771.1:p.Val340Leu
XM_011520470.1:c.973G>T	XP_011518772.1:p.Val325Leu
XR_242832.1:n.1466G>T
XR_428862.2:n.1141G>T
XR_428863.2:n.1137G>T
XR_930928.1:n.1162G>T
NM_001330245.1:c.*78G>T	NP_001317174.1:n.*78G>T
NR_134854.1:n.1322G>T
XM_006718381.3:c.1105G>T	XP_006718444.1:p.Val369Leu
XM_006718383.3:c.997G>T	XP_006718446.1:p.Val333Leu
XM_011520468.3:c.1081G>T	XP_011518770.1:p.Val361Leu
XM_011520470.2:c.973G>T	XP_011518772.1:p.Val325Leu
XM_017018540.2:c.1060G>T	XP_016874029.1:p.Val354Leu
XM_017018541.2:c.952G>T	XP_016874030.1:p.Val318Leu
XM_024448762.1:c.1210G>T	XP_024304530.1:p.Val404Leu
XR_001748027.1:n.1281G>T
XR_001748028.1:n.1263G>T
XR_428862.3:n.1141G>T
XR_428863.3:n.1137G>T
XR_930928.2:n.1162G>T
NM_001128225.3:c.1081G>T MANE Select	NP_001121697.2:p.Val361Leu
NM_001330245.2:c.*78G>T	NP_001317174.2:n.*78G>T
NM_152264.5:c.1060G>T	NP_689477.3:p.Val354Leu