Canonical Allele Identifier: CA102674208

Gene: SLC39A8

Linked Data

• dbSNP Id: rs1007527911
• gnomAD v2: 4-103189228-T-C
• gnomAD v4: 4-102268071-T-C
• MyVariant Identifiers: chr4:g.103189228T>C (hg19) ; chr4:g.102268071T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102268071T>C , CM000666.2:g.102268071T>C	GRCh38
NC_000004.11:g.103189228T>C , CM000666.1:g.103189228T>C	GRCh37
NC_000004.10:g.103408251T>C	NCBI36
NG_047177.1:g.82428A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424970.7:c.874A>G	ENSP00000394548.3:p.Lys292Glu
ENST00000682227.1:c.849A>G	ENSP00000508363.1:p.Lys283=
ENST00000682243.1:c.*995A>G	ENSP00000507952.1:n.*995A>G
ENST00000682549.1:c.874A>G	ENSP00000507483.1:p.Lys292Glu
ENST00000682932.1:c.849A>G	ENSP00000507414.1:p.Lys283=
ENST00000683173.1:c.*970A>G	ENSP00000508032.1:n.*970A>G
ENST00000683221.1:c.849A>G	ENSP00000508093.1:p.Lys283=
ENST00000683401.1:n.782A>G
ENST00000683412.1:c.849A>G	ENSP00000507538.1:p.Lys283=
ENST00000683462.1:c.874A>G	ENSP00000507170.1:p.Lys292Glu
ENST00000683634.1:c.*970A>G	ENSP00000507087.1:n.*970A>G
ENST00000683706.1:c.253A>G	ENSP00000506745.1:p.Lys85Glu
ENST00000683916.1:c.874A>G	ENSP00000508106.1:p.Lys292Glu
ENST00000684289.1:c.*524A>G	ENSP00000506748.1:n.*524A>G
ENST00000684386.1:c.*63A>G	ENSP00000507611.1:n.*63A>G
ENST00000356736.5:c.849A>G MANE Select	ENSP00000349174.4:p.Lys283=
ENST00000356736.4:c.849A>G	ENSP00000349174.4:p.Lys283=
ENST00000394833.6:c.849A>G	ENSP00000378310.2:p.Lys283=
ENST00000424970.6:c.849A>G	ENSP00000394548.2:p.Lys283=
NM_001135146.1:c.849A>G	NP_001128618.1:p.Lys283=
NM_001135147.1:c.849A>G	NP_001128619.1:p.Lys283=
NM_001135148.1:c.648A>G	NP_001128620.1:p.Lys216=
NM_022154.5:c.849A>G	NP_071437.3:p.Lys283=
XM_005263177.1:c.849A>G	XP_005263234.1:p.Lys283=
XM_011532182.1:c.207A>G	XP_011530484.1:p.Lys69=
XM_005263177.2:c.849A>G	XP_005263234.1:p.Lys283=
XM_017008541.1:c.648A>G	XP_016864030.1:p.Lys216=
XM_024454184.1:c.849A>G	XP_024309952.1:p.Lys283=
NM_001135146.2:c.849A>G MANE Select	NP_001128618.1:p.Lys283=
NM_001135148.2:c.648A>G	NP_001128620.1:p.Lys216=