Canonical Allele Identifier: CA1481301251

Gene: SLC39A8

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102267993G= , CM000666.2:g.102267993G=	GRCh38
NC_000004.11:g.103189150G= , CM000666.1:g.103189150G=	GRCh37
NC_000004.10:g.103408173G=	NCBI36
NG_047177.1:g.82506C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424970.7:c.952C=	ENSP00000394548.3:p.Leu318=
ENST00000682227.1:c.927C=	ENSP00000508363.1:p.Leu309=
ENST00000682243.1:c.*1073C=	ENSP00000507952.1:n.*1073C=
ENST00000682549.1:c.952C=	ENSP00000507483.1:p.Leu318=
ENST00000682932.1:c.927C=	ENSP00000507414.1:p.Leu309=
ENST00000683173.1:c.*1048C=	ENSP00000508032.1:n.*1048C=
ENST00000683221.1:c.927C=	ENSP00000508093.1:p.Leu309=
ENST00000683401.1:n.860C=
ENST00000683412.1:c.927C=	ENSP00000507538.1:p.Leu309=
ENST00000683462.1:c.952C=	ENSP00000507170.1:p.Leu318=
ENST00000683634.1:c.*1048C=	ENSP00000507087.1:n.*1048C=
ENST00000683706.1:c.331C=	ENSP00000506745.1:p.Leu111=
ENST00000683916.1:c.952C=	ENSP00000508106.1:p.Leu318=
ENST00000684289.1:c.*602C=	ENSP00000506748.1:n.*602C=
ENST00000684386.1:c.*141C=	ENSP00000507611.1:n.*141C=
ENST00000356736.5:c.927C= MANE Select	ENSP00000349174.4:p.Leu309=
ENST00000356736.4:c.927C=	ENSP00000349174.4:p.Leu309=
ENST00000394833.6:c.927C=	ENSP00000378310.2:p.Leu309=
ENST00000424970.6:c.927C=	ENSP00000394548.2:p.Leu309=
NM_001135146.1:c.927C=	NP_001128618.1:p.Leu309=
NM_001135147.1:c.927C=	NP_001128619.1:p.Leu309=
NM_001135148.1:c.726C=	NP_001128620.1:p.Leu242=
NM_022154.5:c.927C=	NP_071437.3:p.Leu309=
XM_005263177.1:c.927C=	XP_005263234.1:p.Leu309=
XM_011532182.1:c.285C=	XP_011530484.1:p.Leu95=
XM_005263177.2:c.927C=	XP_005263234.1:p.Leu309=
XM_017008541.1:c.726C=	XP_016864030.1:p.Leu242=
XM_024454184.1:c.927C=	XP_024309952.1:p.Leu309=
NM_001135146.2:c.927C= MANE Select	NP_001128618.1:p.Leu309=
NM_001135148.2:c.726C=	NP_001128620.1:p.Leu242=