Canonical Allele Identifier: CA440520670

Gene: SLC39A8

Linked Data

• dbSNP Id: rs1304065233
• gnomAD v2: 4-103189207-G-C
• gnomAD v4: 4-102268050-G-C
• MyVariant Identifiers: chr4:g.103189207G>C (hg19) ; chr4:g.102268050G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102268050G>C , CM000666.2:g.102268050G>C	GRCh38
NC_000004.11:g.103189207G>C , CM000666.1:g.103189207G>C	GRCh37
NC_000004.10:g.103408230G>C	NCBI36
NG_047177.1:g.82449C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424970.7:c.895C>G	ENSP00000394548.3:p.Leu299Val
ENST00000682227.1:c.870C>G	ENSP00000508363.1:p.Thr290=
ENST00000682243.1:c.*1016C>G	ENSP00000507952.1:n.*1016C>G
ENST00000682549.1:c.895C>G	ENSP00000507483.1:p.Leu299Val
ENST00000682932.1:c.870C>G	ENSP00000507414.1:p.Thr290=
ENST00000683173.1:c.*991C>G	ENSP00000508032.1:n.*991C>G
ENST00000683221.1:c.870C>G	ENSP00000508093.1:p.Thr290=
ENST00000683401.1:n.803C>G
ENST00000683412.1:c.870C>G	ENSP00000507538.1:p.Thr290=
ENST00000683462.1:c.895C>G	ENSP00000507170.1:p.Leu299Val
ENST00000683634.1:c.*991C>G	ENSP00000507087.1:n.*991C>G
ENST00000683706.1:c.274C>G	ENSP00000506745.1:p.Leu92Val
ENST00000683916.1:c.895C>G	ENSP00000508106.1:p.Leu299Val
ENST00000684289.1:c.*545C>G	ENSP00000506748.1:n.*545C>G
ENST00000684386.1:c.*84C>G	ENSP00000507611.1:n.*84C>G
ENST00000356736.5:c.870C>G MANE Select	ENSP00000349174.4:p.Thr290=
ENST00000356736.4:c.870C>G	ENSP00000349174.4:p.Thr290=
ENST00000394833.6:c.870C>G	ENSP00000378310.2:p.Thr290=
ENST00000424970.6:c.870C>G	ENSP00000394548.2:p.Thr290=
NM_001135146.1:c.870C>G	NP_001128618.1:p.Thr290=
NM_001135147.1:c.870C>G	NP_001128619.1:p.Thr290=
NM_001135148.1:c.669C>G	NP_001128620.1:p.Thr223=
NM_022154.5:c.870C>G	NP_071437.3:p.Thr290=
XM_005263177.1:c.870C>G	XP_005263234.1:p.Thr290=
XM_011532182.1:c.228C>G	XP_011530484.1:p.Thr76=
XM_005263177.2:c.870C>G	XP_005263234.1:p.Thr290=
XM_017008541.1:c.669C>G	XP_016864030.1:p.Thr223=
XM_024454184.1:c.870C>G	XP_024309952.1:p.Thr290=
NM_001135146.2:c.870C>G MANE Select	NP_001128618.1:p.Thr290=
NM_001135148.2:c.669C>G	NP_001128620.1:p.Thr223=