Canonical Allele Identifier: CA645372514

Gene: SPI1 SLC39A13

Linked Data

• ClinVar Variation Id: 432424
• ClinVar RCV Id: RCV000498709
• dbSNP Id: rs920033870
• gnomAD v4: 11-47408665-G-T
• MyVariant Identifiers: chr11:g.47430216G>T (hg19) ; chr11:g.47408665G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47408665G>T , CM000673.2:g.47408665G>T	GRCh38
NC_000011.9:g.47430216G>T , CM000673.1:g.47430216G>T	GRCh37
NC_000011.8:g.47386792G>T	NCBI36
NG_017073.1:g.5171G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713543.1:c.-1779+287C>A (SPI1)	ENSP00000518839.1:n.-1779+287C>A
ENST00000362021.9:c.-9+3G>T (SLC39A13) MANE Select	ENSP00000354689.4:n.-9+3G>T
ENST00000354884.8:c.-30+3G>T (SLC39A13)	ENSP00000346956.4:n.-30+3G>T
ENST00000362021.8:c.-9+3G>T (SLC39A13)	ENSP00000354689.4:n.-9+3G>T
ENST00000531419.5:c.-9+3G>T (SLC39A13)	ENSP00000432302.1:n.-9+3G>T
ENST00000531865.5:c.-9+3G>T (SLC39A13)	ENSP00000434684.1:n.-9+3G>T
ENST00000531974.5:c.-9+3G>T (SLC39A13)	ENSP00000435845.1:n.-9+3G>T
ENST00000533076.5:c.-9+1132G>T (SLC39A13)	ENSP00000434290.1:n.-9+1132G>T
NM_001128225.2:c.-9+3G>T (SLC39A13)	NP_001121697.1:n.-9+3G>T
NM_152264.4:c.-30+3G>T (SLC39A13)	NP_689477.2:n.-30+3G>T
XM_011520467.1:c.-9+1132G>T (SLC39A13)	XP_011518769.1:n.-9+1132G>T
XM_011520468.1:c.-9+979G>T (SLC39A13)	XP_011518770.1:n.-9+979G>T
XM_011520470.1:c.-9+3G>T (SLC39A13)	XP_011518772.1:n.-9+3G>T
XR_242832.1:n.402+1132G>T (SLC39A13)
NM_001330245.1:c.-9+3G>T (SLC39A13)	NP_001317174.1:n.-9+3G>T
NR_134854.1:n.258+1132G>T (SLC39A13)
XM_011520468.3:c.-9+979G>T (SLC39A13)	XP_011518770.1:n.-9+979G>T
XM_011520470.2:c.-9+3G>T (SLC39A13)	XP_011518772.1:n.-9+3G>T
XM_017018540.2:c.-9+3G>T (SLC39A13)	XP_016874029.1:n.-9+3G>T
XM_017018541.2:c.-9+3G>T (SLC39A13)	XP_016874030.1:n.-9+3G>T
XM_024448762.1:c.-9+3G>T (SLC39A13)	XP_024304530.1:n.-9+3G>T
NM_001128225.3:c.-9+3G>T (SLC39A13) MANE Select	NP_001121697.2:n.-9+3G>T
NM_001330245.2:c.-9+3G>T (SLC39A13)	NP_001317174.2:n.-9+3G>T
NM_152264.5:c.-30+3G>T (SLC39A13)	NP_689477.3:n.-30+3G>T