Canonical Allele Identifier: CA5976048

Gene: SLC39A13

Linked Data

• ClinVar Variation Id: 681139
• ClinVar RCV Id: RCV000840986 ; RCV002538301
• dbSNP Id: rs762412348
• ExAC: 11:47436824 G / A
• gnomAD v2: 11-47436824-G-A
• gnomAD v3: 11-47415273-G-A
• gnomAD v4: 11-47415273-G-A
• MyVariant Identifiers: chr11:g.47436824G>A (hg19) ; chr11:g.47415273G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415273G>A , CM000673.2:g.47415273G>A	GRCh38
NC_000011.9:g.47436824G>A , CM000673.1:g.47436824G>A	GRCh37
NC_000011.8:g.47393400G>A	NCBI36
NG_017073.1:g.11779G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1041-15G>A MANE Select	ENSP00000354689.4:n.1041-15G>A
ENST00000354884.8:c.1020-15G>A	ENSP00000346956.4:n.1020-15G>A
ENST00000362021.8:c.1041-15G>A	ENSP00000354689.4:n.1041-15G>A
ENST00000524886.1:n.299-15G>A
ENST00000524928.1:c.*1356G>A	ENSP00000437186.1:n.*1356G>A
ENST00000527829.1:n.386G>A
ENST00000533076.5:c.*38-15G>A	ENSP00000434290.1:n.*38-15G>A
NM_001128225.2:c.1041-15G>A	NP_001121697.1:n.1041-15G>A
NM_152264.4:c.1020-15G>A	NP_689477.2:n.1020-15G>A
XM_006718381.2:c.1065-15G>A	XP_006718444.1:n.1065-15G>A
XM_006718383.2:c.957-15G>A	XP_006718446.1:n.957-15G>A
XM_006718384.2:c.*38-15G>A	XP_006718447.1:n.*38-15G>A
XM_006718385.2:c.*38-15G>A	XP_006718448.1:n.*38-15G>A
XM_011520466.1:c.1086-15G>A	XP_011518768.1:n.1086-15G>A
XM_011520467.1:c.1041-15G>A	XP_011518769.1:n.1041-15G>A
XM_011520468.1:c.1041-15G>A	XP_011518770.1:n.1041-15G>A
XM_011520469.1:c.978-15G>A	XP_011518771.1:n.978-15G>A
XM_011520470.1:c.933-15G>A	XP_011518772.1:n.933-15G>A
XR_242832.1:n.1426-15G>A
XR_428862.2:n.1101-15G>A
XR_428863.2:n.1097-15G>A
XR_930928.1:n.1122-15G>A
NM_001330245.1:c.*38-15G>A	NP_001317174.1:n.*38-15G>A
NR_134854.1:n.1282-15G>A
XM_006718381.3:c.1065-15G>A	XP_006718444.1:n.1065-15G>A
XM_006718383.3:c.957-15G>A	XP_006718446.1:n.957-15G>A
XM_011520468.3:c.1041-15G>A	XP_011518770.1:n.1041-15G>A
XM_011520470.2:c.933-15G>A	XP_011518772.1:n.933-15G>A
XM_017018540.2:c.1020-15G>A	XP_016874029.1:n.1020-15G>A
XM_017018541.2:c.912-15G>A	XP_016874030.1:n.912-15G>A
XM_024448762.1:c.1170-15G>A	XP_024304530.1:n.1170-15G>A
XR_001748027.1:n.1241-15G>A
XR_001748028.1:n.1223-15G>A
XR_428862.3:n.1101-15G>A
XR_428863.3:n.1097-15G>A
XR_930928.2:n.1122-15G>A
NM_001128225.3:c.1041-15G>A MANE Select	NP_001121697.2:n.1041-15G>A
NM_001330245.2:c.*38-15G>A	NP_001317174.2:n.*38-15G>A
NM_152264.5:c.1020-15G>A	NP_689477.3:n.1020-15G>A