Canonical Allele Identifier: CA102674198

Gene: SLC39A8

Linked Data

• dbSNP Id: rs921394951
• gnomAD v2: 4-103189172-G-A
• gnomAD v4: 4-102268015-G-A
• COSMIC: COSM2951835 ; COSM6033531
• MyVariant Identifiers: chr4:g.103189172G>A (hg19) ; chr4:g.102268015G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102268015G>A , CM000666.2:g.102268015G>A	GRCh38
NC_000004.11:g.103189172G>A , CM000666.1:g.103189172G>A	GRCh37
NC_000004.10:g.103408195G>A	NCBI36
NG_047177.1:g.82484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424970.7:c.930C>T	ENSP00000394548.3:p.Asp310=
ENST00000682227.1:c.905C>T	ENSP00000508363.1:p.Thr302Met
ENST00000682243.1:c.*1051C>T	ENSP00000507952.1:n.*1051C>T
ENST00000682549.1:c.930C>T	ENSP00000507483.1:p.Asp310=
ENST00000682932.1:c.905C>T	ENSP00000507414.1:p.Thr302Met
ENST00000683173.1:c.*1026C>T	ENSP00000508032.1:n.*1026C>T
ENST00000683221.1:c.905C>T	ENSP00000508093.1:p.Thr302Met
ENST00000683401.1:n.838C>T
ENST00000683412.1:c.905C>T	ENSP00000507538.1:p.Thr302Met
ENST00000683462.1:c.930C>T	ENSP00000507170.1:p.Asp310=
ENST00000683634.1:c.*1026C>T	ENSP00000507087.1:n.*1026C>T
ENST00000683706.1:c.309C>T	ENSP00000506745.1:p.Asp103=
ENST00000683916.1:c.930C>T	ENSP00000508106.1:p.Asp310=
ENST00000684289.1:c.*580C>T	ENSP00000506748.1:n.*580C>T
ENST00000684386.1:c.*119C>T	ENSP00000507611.1:n.*119C>T
ENST00000356736.5:c.905C>T MANE Select	ENSP00000349174.4:p.Thr302Met
ENST00000356736.4:c.905C>T	ENSP00000349174.4:p.Thr302Met
ENST00000394833.6:c.905C>T	ENSP00000378310.2:p.Thr302Met
ENST00000424970.6:c.905C>T	ENSP00000394548.2:p.Thr302Met
NM_001135146.1:c.905C>T	NP_001128618.1:p.Thr302Met
NM_001135147.1:c.905C>T	NP_001128619.1:p.Thr302Met
NM_001135148.1:c.704C>T	NP_001128620.1:p.Thr235Met
NM_022154.5:c.905C>T	NP_071437.3:p.Thr302Met
XM_005263177.1:c.905C>T	XP_005263234.1:p.Thr302Met
XM_011532182.1:c.263C>T	XP_011530484.1:p.Thr88Met
XM_005263177.2:c.905C>T	XP_005263234.1:p.Thr302Met
XM_017008541.1:c.704C>T	XP_016864030.1:p.Thr235Met
XM_024454184.1:c.905C>T	XP_024309952.1:p.Thr302Met
NM_001135146.2:c.905C>T MANE Select	NP_001128618.1:p.Thr302Met
NM_001135148.2:c.704C>T	NP_001128620.1:p.Thr235Met