Canonical Allele Identifier: CA380315489

Gene: SLC39A13

Linked Data

• ClinVar Variation Id: 3164661
• ClinVar RCV Id: RCV004461531
• dbSNP Id: rs1478564196
• gnomAD v2: 11-47436871-C-T
• gnomAD v3: 11-47415320-C-T
• gnomAD v4: 11-47415320-C-T
• MyVariant Identifiers: chr11:g.47436871C>T (hg19) ; chr11:g.47415320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415320C>T , CM000673.2:g.47415320C>T	GRCh38
NC_000011.9:g.47436871C>T , CM000673.1:g.47436871C>T	GRCh37
NC_000011.8:g.47393447C>T	NCBI36
NG_017073.1:g.11826C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1073C>T MANE Select	ENSP00000354689.4:p.Ala358Val
ENST00000354884.8:c.1052C>T	ENSP00000346956.4:p.Ala351Val
ENST00000362021.8:c.1073C>T	ENSP00000354689.4:p.Ala358Val
ENST00000524886.1:n.331C>T
ENST00000524928.1:c.*1403C>T	ENSP00000437186.1:n.*1403C>T
ENST00000527829.1:n.433C>T
ENST00000533076.5:c.*70C>T	ENSP00000434290.1:n.*70C>T
NM_001128225.2:c.1073C>T	NP_001121697.1:p.Ala358Val
NM_152264.4:c.1052C>T	NP_689477.2:p.Ala351Val
XM_006718381.2:c.1097C>T	XP_006718444.1:p.Ala366Val
XM_006718383.2:c.989C>T	XP_006718446.1:p.Ala330Val
XM_006718384.2:c.*70C>T	XP_006718447.1:n.*70C>T
XM_006718385.2:c.*70C>T	XP_006718448.1:n.*70C>T
XM_011520466.1:c.1118C>T	XP_011518768.1:p.Ala373Val
XM_011520467.1:c.1073C>T	XP_011518769.1:p.Ala358Val
XM_011520468.1:c.1073C>T	XP_011518770.1:p.Ala358Val
XM_011520469.1:c.1010C>T	XP_011518771.1:p.Ala337Val
XM_011520470.1:c.965C>T	XP_011518772.1:p.Ala322Val
XR_242832.1:n.1458C>T
XR_428862.2:n.1133C>T
XR_428863.2:n.1129C>T
XR_930928.1:n.1154C>T
NM_001330245.1:c.*70C>T	NP_001317174.1:n.*70C>T
NR_134854.1:n.1314C>T
XM_006718381.3:c.1097C>T	XP_006718444.1:p.Ala366Val
XM_006718383.3:c.989C>T	XP_006718446.1:p.Ala330Val
XM_011520468.3:c.1073C>T	XP_011518770.1:p.Ala358Val
XM_011520470.2:c.965C>T	XP_011518772.1:p.Ala322Val
XM_017018540.2:c.1052C>T	XP_016874029.1:p.Ala351Val
XM_017018541.2:c.944C>T	XP_016874030.1:p.Ala315Val
XM_024448762.1:c.1202C>T	XP_024304530.1:p.Ala401Val
XR_001748027.1:n.1273C>T
XR_001748028.1:n.1255C>T
XR_428862.3:n.1133C>T
XR_428863.3:n.1129C>T
XR_930928.2:n.1154C>T
NM_001128225.3:c.1073C>T MANE Select	NP_001121697.2:p.Ala358Val
NM_001330245.2:c.*70C>T	NP_001317174.2:n.*70C>T
NM_152264.5:c.1052C>T	NP_689477.3:p.Ala351Val