Canonical Allele Identifier: CA5976038

Gene: SLC39A13

Linked Data

• dbSNP Id: rs201008073
• ExAC: 11:47436748 A / C
• gnomAD v2: 11-47436748-A-C
• gnomAD v3: 11-47415197-A-C
• gnomAD v4: 11-47415197-A-C
• MyVariant Identifiers: chr11:g.47436748A>C (hg19) ; chr11:g.47415197A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415197A>C , CM000673.2:g.47415197A>C	GRCh38
NC_000011.9:g.47436748A>C , CM000673.1:g.47436748A>C	GRCh37
NC_000011.8:g.47393324A>C	NCBI36
NG_017073.1:g.11703A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1040+38A>C MANE Select	ENSP00000354689.4:n.1040+38A>C
ENST00000354884.8:c.1019+38A>C	ENSP00000346956.4:n.1019+38A>C
ENST00000362021.8:c.1040+38A>C	ENSP00000354689.4:n.1040+38A>C
ENST00000524886.1:n.298+38A>C
ENST00000524928.1:c.*1280A>C	ENSP00000437186.1:n.*1280A>C
ENST00000527829.1:n.310A>C
ENST00000533076.5:c.*37+38A>C	ENSP00000434290.1:n.*37+38A>C
NM_001128225.2:c.1040+38A>C	NP_001121697.1:n.1040+38A>C
NM_152264.4:c.1019+38A>C	NP_689477.2:n.1019+38A>C
XM_006718381.2:c.1064+38A>C	XP_006718444.1:n.1064+38A>C
XM_006718383.2:c.956+38A>C	XP_006718446.1:n.956+38A>C
XM_006718384.2:c.*37+38A>C	XP_006718447.1:n.*37+38A>C
XM_006718385.2:c.*37+38A>C	XP_006718448.1:n.*37+38A>C
XM_011520466.1:c.1085+38A>C	XP_011518768.1:n.1085+38A>C
XM_011520467.1:c.1040+38A>C	XP_011518769.1:n.1040+38A>C
XM_011520468.1:c.1040+38A>C	XP_011518770.1:n.1040+38A>C
XM_011520469.1:c.977+38A>C	XP_011518771.1:n.977+38A>C
XM_011520470.1:c.932+38A>C	XP_011518772.1:n.932+38A>C
XR_242832.1:n.1425+38A>C
XR_428862.2:n.1100+38A>C
XR_428863.2:n.1096+38A>C
XR_930928.1:n.1121+38A>C
NM_001330245.1:c.*37+38A>C	NP_001317174.1:n.*37+38A>C
NR_134854.1:n.1281+38A>C
XM_006718381.3:c.1064+38A>C	XP_006718444.1:n.1064+38A>C
XM_006718383.3:c.956+38A>C	XP_006718446.1:n.956+38A>C
XM_011520468.3:c.1040+38A>C	XP_011518770.1:n.1040+38A>C
XM_011520470.2:c.932+38A>C	XP_011518772.1:n.932+38A>C
XM_017018540.2:c.1019+38A>C	XP_016874029.1:n.1019+38A>C
XM_017018541.2:c.911+38A>C	XP_016874030.1:n.911+38A>C
XM_024448762.1:c.1169+38A>C	XP_024304530.1:n.1169+38A>C
XR_001748027.1:n.1240+38A>C
XR_001748028.1:n.1222+38A>C
XR_428862.3:n.1100+38A>C
XR_428863.3:n.1096+38A>C
XR_930928.2:n.1121+38A>C
NM_001128225.3:c.1040+38A>C MANE Select	NP_001121697.2:n.1040+38A>C
NM_001330245.2:c.*37+38A>C	NP_001317174.2:n.*37+38A>C
NM_152264.5:c.1019+38A>C	NP_689477.3:n.1019+38A>C