Canonical Allele Identifier: CA380315436

Gene: SLC39A13

Linked Data

• MyVariant Identifiers: chr11:g.47436859T>G (hg19) ; chr11:g.47415308T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415308T>G , CM000673.2:g.47415308T>G	GRCh38
NC_000011.9:g.47436859T>G , CM000673.1:g.47436859T>G	GRCh37
NC_000011.8:g.47393435T>G	NCBI36
NG_017073.1:g.11814T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1061T>G MANE Select	ENSP00000354689.4:p.Leu354Arg
ENST00000354884.8:c.1040T>G	ENSP00000346956.4:p.Leu347Arg
ENST00000362021.8:c.1061T>G	ENSP00000354689.4:p.Leu354Arg
ENST00000524886.1:n.319T>G
ENST00000524928.1:c.*1391T>G	ENSP00000437186.1:n.*1391T>G
ENST00000527829.1:n.421T>G
ENST00000533076.5:c.*58T>G	ENSP00000434290.1:n.*58T>G
NM_001128225.2:c.1061T>G	NP_001121697.1:p.Leu354Arg
NM_152264.4:c.1040T>G	NP_689477.2:p.Leu347Arg
XM_006718381.2:c.1085T>G	XP_006718444.1:p.Leu362Arg
XM_006718383.2:c.977T>G	XP_006718446.1:p.Leu326Arg
XM_006718384.2:c.*58T>G	XP_006718447.1:n.*58T>G
XM_006718385.2:c.*58T>G	XP_006718448.1:n.*58T>G
XM_011520466.1:c.1106T>G	XP_011518768.1:p.Leu369Arg
XM_011520467.1:c.1061T>G	XP_011518769.1:p.Leu354Arg
XM_011520468.1:c.1061T>G	XP_011518770.1:p.Leu354Arg
XM_011520469.1:c.998T>G	XP_011518771.1:p.Leu333Arg
XM_011520470.1:c.953T>G	XP_011518772.1:p.Leu318Arg
XR_242832.1:n.1446T>G
XR_428862.2:n.1121T>G
XR_428863.2:n.1117T>G
XR_930928.1:n.1142T>G
NM_001330245.1:c.*58T>G	NP_001317174.1:n.*58T>G
NR_134854.1:n.1302T>G
XM_006718381.3:c.1085T>G	XP_006718444.1:p.Leu362Arg
XM_006718383.3:c.977T>G	XP_006718446.1:p.Leu326Arg
XM_011520468.3:c.1061T>G	XP_011518770.1:p.Leu354Arg
XM_011520470.2:c.953T>G	XP_011518772.1:p.Leu318Arg
XM_017018540.2:c.1040T>G	XP_016874029.1:p.Leu347Arg
XM_017018541.2:c.932T>G	XP_016874030.1:p.Leu311Arg
XM_024448762.1:c.1190T>G	XP_024304530.1:p.Leu397Arg
XR_001748027.1:n.1261T>G
XR_001748028.1:n.1243T>G
XR_428862.3:n.1121T>G
XR_428863.3:n.1117T>G
XR_930928.2:n.1142T>G
NM_001128225.3:c.1061T>G MANE Select	NP_001121697.2:p.Leu354Arg
NM_001330245.2:c.*58T>G	NP_001317174.2:n.*58T>G
NM_152264.5:c.1040T>G	NP_689477.3:p.Leu347Arg