Canonical Allele Identifier: CA357753494

Gene: SLC39A8

Linked Data

• dbSNP Id: rs1403269067
• gnomAD v2: 4-103226249-T-C
• gnomAD v3: 4-102305092-T-C
• gnomAD v4: 4-102305092-T-C
• MyVariant Identifiers: chr4:g.103226249T>C (hg19) ; chr4:g.102305092T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102305092T>C , CM000666.2:g.102305092T>C	GRCh38
NC_000004.11:g.103226249T>C , CM000666.1:g.103226249T>C	GRCh37
NC_000004.10:g.103445272T>C	NCBI36
NG_047177.1:g.45407A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424970.7:c.572A>G	ENSP00000394548.3:p.Lys191Arg
ENST00000682227.1:c.572A>G	ENSP00000508363.1:p.Lys191Arg
ENST00000682243.1:c.*693A>G	ENSP00000507952.1:n.*693A>G
ENST00000682549.1:c.572A>G	ENSP00000507483.1:p.Lys191Arg
ENST00000682932.1:c.572A>G	ENSP00000507414.1:p.Lys191Arg
ENST00000683173.1:c.*693A>G	ENSP00000508032.1:n.*693A>G
ENST00000683221.1:c.572A>G	ENSP00000508093.1:p.Lys191Arg
ENST00000683401.1:n.505A>G
ENST00000683412.1:c.572A>G	ENSP00000507538.1:p.Lys191Arg
ENST00000683462.1:c.572A>G	ENSP00000507170.1:p.Lys191Arg
ENST00000683634.1:c.*693A>G	ENSP00000507087.1:n.*693A>G
ENST00000683706.1:c.220-19119A>G	ENSP00000506745.1:n.220-19119A>G
ENST00000683916.1:c.572A>G	ENSP00000508106.1:p.Lys191Arg
ENST00000684289.1:c.*247A>G	ENSP00000506748.1:n.*247A>G
ENST00000684386.1:c.572A>G	ENSP00000507611.1:p.Lys191Arg
ENST00000356736.5:c.572A>G MANE Select	ENSP00000349174.4:p.Lys191Arg
ENST00000356736.4:c.572A>G	ENSP00000349174.4:p.Lys191Arg
ENST00000394833.6:c.572A>G	ENSP00000378310.2:p.Lys191Arg
ENST00000424970.6:c.572A>G	ENSP00000394548.2:p.Lys191Arg
ENST00000510255.5:n.500A>G
ENST00000512657.5:n.491A>G
ENST00000514000.5:n.276A>G
NM_001135146.1:c.572A>G	NP_001128618.1:p.Lys191Arg
NM_001135147.1:c.572A>G	NP_001128619.1:p.Lys191Arg
NM_001135148.1:c.371A>G	NP_001128620.1:p.Lys124Arg
NM_022154.5:c.572A>G	NP_071437.3:p.Lys191Arg
XM_005263177.1:c.572A>G	XP_005263234.1:p.Lys191Arg
XM_011532181.1:c.572A>G	XP_011530483.1:p.Lys191Arg
XM_011532182.1:c.-71A>G	XP_011530484.1:n.-71A>G
XM_005263177.2:c.572A>G	XP_005263234.1:p.Lys191Arg
XM_017008541.1:c.371A>G	XP_016864030.1:p.Lys124Arg
XM_024454183.1:c.572A>G	XP_024309951.1:p.Lys191Arg
XM_024454184.1:c.572A>G	XP_024309952.1:p.Lys191Arg
NM_001135146.2:c.572A>G MANE Select	NP_001128618.1:p.Lys191Arg
NM_001135148.2:c.371A>G	NP_001128620.1:p.Lys124Arg