Canonical Allele Identifier: CA474210396

Gene: SLC39A13

Linked Data

• dbSNP Id: rs2096020424
• gnomAD v3: 11-47415139-C-T
• gnomAD v4: 11-47415139-C-T
• MyVariant Identifiers: chr11:g.47436690C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415139C>T , CM000673.2:g.47415139C>T	GRCh38
NC_000011.9:g.47436690C>T , CM000673.1:g.47436690C>T	GRCh37
NC_000011.8:g.47393266C>T	NCBI36
NG_017073.1:g.11645C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1020C>T MANE Select	ENSP00000354689.4:p.Leu340=
ENST00000354884.8:c.999C>T	ENSP00000346956.4:p.Leu333=
ENST00000362021.8:c.1020C>T	ENSP00000354689.4:p.Leu340=
ENST00000524886.1:n.278C>T
ENST00000524928.1:c.*1222C>T	ENSP00000437186.1:n.*1222C>T
ENST00000527829.1:n.252C>T
ENST00000533076.5:c.*17C>T	ENSP00000434290.1:n.*17C>T
NM_001128225.2:c.1020C>T	NP_001121697.1:p.Leu340=
NM_152264.4:c.999C>T	NP_689477.2:p.Leu333=
XM_006718381.2:c.1044C>T	XP_006718444.1:p.Leu348=
XM_006718383.2:c.936C>T	XP_006718446.1:p.Leu312=
XM_006718384.2:c.*17C>T	XP_006718447.1:n.*17C>T
XM_006718385.2:c.*17C>T	XP_006718448.1:n.*17C>T
XM_011520466.1:c.1065C>T	XP_011518768.1:p.Leu355=
XM_011520467.1:c.1020C>T	XP_011518769.1:p.Leu340=
XM_011520468.1:c.1020C>T	XP_011518770.1:p.Leu340=
XM_011520469.1:c.957C>T	XP_011518771.1:p.Leu319=
XM_011520470.1:c.912C>T	XP_011518772.1:p.Leu304=
XR_242832.1:n.1405C>T
XR_428862.2:n.1080C>T
XR_428863.2:n.1076C>T
XR_930928.1:n.1101C>T
NM_001330245.1:c.*17C>T	NP_001317174.1:n.*17C>T
NR_134854.1:n.1261C>T
XM_006718381.3:c.1044C>T	XP_006718444.1:p.Leu348=
XM_006718383.3:c.936C>T	XP_006718446.1:p.Leu312=
XM_011520468.3:c.1020C>T	XP_011518770.1:p.Leu340=
XM_011520470.2:c.912C>T	XP_011518772.1:p.Leu304=
XM_017018540.2:c.999C>T	XP_016874029.1:p.Leu333=
XM_017018541.2:c.891C>T	XP_016874030.1:p.Leu297=
XM_024448762.1:c.1149C>T	XP_024304530.1:p.Leu383=
XR_001748027.1:n.1220C>T
XR_001748028.1:n.1202C>T
XR_428862.3:n.1080C>T
XR_428863.3:n.1076C>T
XR_930928.2:n.1101C>T
NM_001128225.3:c.1020C>T MANE Select	NP_001121697.2:p.Leu340=
NM_001330245.2:c.*17C>T	NP_001317174.2:n.*17C>T
NM_152264.5:c.999C>T	NP_689477.3:p.Leu333=