Canonical Allele Identifier: CA385301349

Gene: SLC39A5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.56235561C>A , CM000674.2:g.56235561C>A	GRCh38
NC_000012.11:g.56629345C>A , CM000674.1:g.56629345C>A	GRCh37
NC_000012.10:g.54915612C>A	NCBI36
NG_034265.1:g.10526C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_173596.3:c.806C>A MANE Select	NP_775867.2:p.Ala269Glu
ENST00000454355.7:c.806C>A MANE Select	ENSP00000405360.2:p.Ala269Glu
NM_001135195.1:c.806C>A	NP_001128667.1:p.Ala269Glu
NM_173596.2:c.806C>A	NP_775867.2:p.Ala269Glu
ENST00000266980.8:c.806C>A	ENSP00000266980.4:p.Ala269Glu
ENST00000454355.6:c.806C>A	ENSP00000405360.2:p.Ala269Glu
ENST00000481103.5:n.675C>A
XM_005268803.1:c.806C>A	XP_005268860.1:p.Ala269Glu
XM_005268803.2:c.806C>A	XP_005268860.1:p.Ala269Glu
XM_011538198.1:c.806C>A	XP_011536500.1:p.Ala269Glu
XM_011538198.2:c.806C>A	XP_011536500.1:p.Ala269Glu
XM_011538199.1:c.806C>A	XP_011536501.1:p.Ala269Glu
XM_011538199.2:c.806C>A	XP_011536501.1:p.Ala269Glu
XM_011538200.1:c.806C>A	XP_011536502.1:p.Ala269Glu
XM_011538200.2:c.806C>A	XP_011536502.1:p.Ala269Glu
XM_011538201.1:c.806C>A	XP_011536503.1:p.Ala269Glu
XM_011538201.2:c.806C>A	XP_011536503.1:p.Ala269Glu
XM_011538202.1:c.28C>A	XP_011536504.1:p.His10Asn
XM_017019185.2:c.806C>A	XP_016874674.1:p.Ala269Glu
XM_017019186.1:c.28C>A	XP_016874675.1:p.His10Asn
XM_017019187.2:c.28C>A	XP_016874676.1:p.His10Asn
XR_944520.1:n.994C>A