Canonical Allele Identifier: CA221691719

Gene: SLC39A13

Linked Data

• dbSNP Id: rs879230341
• MyVariant Identifiers: chr11:g.47436858C>T (hg19) ; chr11:g.47415307C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415307C>T , CM000673.2:g.47415307C>T	GRCh38
NC_000011.9:g.47436858C>T , CM000673.1:g.47436858C>T	GRCh37
NC_000011.8:g.47393434C>T	NCBI36
NG_017073.1:g.11813C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1060C>T MANE Select	ENSP00000354689.4:p.Leu354Phe
ENST00000354884.8:c.1039C>T	ENSP00000346956.4:p.Leu347Phe
ENST00000362021.8:c.1060C>T	ENSP00000354689.4:p.Leu354Phe
ENST00000524886.1:n.318C>T
ENST00000524928.1:c.*1390C>T	ENSP00000437186.1:n.*1390C>T
ENST00000527829.1:n.420C>T
ENST00000533076.5:c.*57C>T	ENSP00000434290.1:n.*57C>T
NM_001128225.2:c.1060C>T	NP_001121697.1:p.Leu354Phe
NM_152264.4:c.1039C>T	NP_689477.2:p.Leu347Phe
XM_006718381.2:c.1084C>T	XP_006718444.1:p.Leu362Phe
XM_006718383.2:c.976C>T	XP_006718446.1:p.Leu326Phe
XM_006718384.2:c.*57C>T	XP_006718447.1:n.*57C>T
XM_006718385.2:c.*57C>T	XP_006718448.1:n.*57C>T
XM_011520466.1:c.1105C>T	XP_011518768.1:p.Leu369Phe
XM_011520467.1:c.1060C>T	XP_011518769.1:p.Leu354Phe
XM_011520468.1:c.1060C>T	XP_011518770.1:p.Leu354Phe
XM_011520469.1:c.997C>T	XP_011518771.1:p.Leu333Phe
XM_011520470.1:c.952C>T	XP_011518772.1:p.Leu318Phe
XR_242832.1:n.1445C>T
XR_428862.2:n.1120C>T
XR_428863.2:n.1116C>T
XR_930928.1:n.1141C>T
NM_001330245.1:c.*57C>T	NP_001317174.1:n.*57C>T
NR_134854.1:n.1301C>T
XM_006718381.3:c.1084C>T	XP_006718444.1:p.Leu362Phe
XM_006718383.3:c.976C>T	XP_006718446.1:p.Leu326Phe
XM_011520468.3:c.1060C>T	XP_011518770.1:p.Leu354Phe
XM_011520470.2:c.952C>T	XP_011518772.1:p.Leu318Phe
XM_017018540.2:c.1039C>T	XP_016874029.1:p.Leu347Phe
XM_017018541.2:c.931C>T	XP_016874030.1:p.Leu311Phe
XM_024448762.1:c.1189C>T	XP_024304530.1:p.Leu397Phe
XR_001748027.1:n.1260C>T
XR_001748028.1:n.1242C>T
XR_428862.3:n.1120C>T
XR_428863.3:n.1116C>T
XR_930928.2:n.1141C>T
NM_001128225.3:c.1060C>T MANE Select	NP_001121697.2:p.Leu354Phe
NM_001330245.2:c.*57C>T	NP_001317174.2:n.*57C>T
NM_152264.5:c.1039C>T	NP_689477.3:p.Leu347Phe