Canonical Allele Identifier: CA357749790

Gene: SLC39A8

Linked Data

• gnomAD v4: 4-102267871-C-T
• MyVariant Identifiers: chr4:g.103189028C>T (hg19) ; chr4:g.102267871C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102267871C>T , CM000666.2:g.102267871C>T	GRCh38
NC_000004.11:g.103189028C>T , CM000666.1:g.103189028C>T	GRCh37
NC_000004.10:g.103408051C>T	NCBI36
NG_047177.1:g.82628G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424970.7:c.*20+1G>A	ENSP00000394548.3:n.*20+1G>A
ENST00000682227.1:c.1048+1G>A	ENSP00000508363.1:n.1048+1G>A
ENST00000682243.1:c.*1194+1G>A	ENSP00000507952.1:n.*1194+1G>A
ENST00000682549.1:c.*20+1G>A	ENSP00000507483.1:n.*20+1G>A
ENST00000682932.1:c.1048+1G>A	ENSP00000507414.1:n.1048+1G>A
ENST00000683173.1:c.*1169+1G>A	ENSP00000508032.1:n.*1169+1G>A
ENST00000683221.1:c.1048+1G>A	ENSP00000508093.1:n.1048+1G>A
ENST00000683401.1:n.981+1G>A
ENST00000683412.1:c.1048+1G>A	ENSP00000507538.1:n.1048+1G>A
ENST00000683462.1:c.*20+1G>A	ENSP00000507170.1:n.*20+1G>A
ENST00000683634.1:c.*1169+1G>A	ENSP00000507087.1:n.*1169+1G>A
ENST00000683706.1:c.*20+1G>A	ENSP00000506745.1:n.*20+1G>A
ENST00000683916.1:c.*20+1G>A	ENSP00000508106.1:n.*20+1G>A
ENST00000684289.1:c.*723+1G>A	ENSP00000506748.1:n.*723+1G>A
ENST00000684386.1:c.*262+1G>A	ENSP00000507611.1:n.*262+1G>A
ENST00000356736.5:c.1048+1G>A MANE Select	ENSP00000349174.4:n.1048+1G>A
ENST00000356736.4:c.1048+1G>A	ENSP00000349174.4:n.1048+1G>A
ENST00000394833.6:c.1048+1G>A	ENSP00000378310.2:n.1048+1G>A
ENST00000424970.6:c.1048+1G>A	ENSP00000394548.2:n.1048+1G>A
NM_001135146.1:c.1048+1G>A	NP_001128618.1:n.1048+1G>A
NM_001135147.1:c.1048+1G>A	NP_001128619.1:n.1048+1G>A
NM_001135148.1:c.847+1G>A	NP_001128620.1:n.847+1G>A
NM_022154.5:c.1048+1G>A	NP_071437.3:n.1048+1G>A
XM_005263177.1:c.1048+1G>A	XP_005263234.1:n.1048+1G>A
XM_011532182.1:c.406+1G>A	XP_011530484.1:n.406+1G>A
XM_005263177.2:c.1048+1G>A	XP_005263234.1:n.1048+1G>A
XM_017008541.1:c.847+1G>A	XP_016864030.1:n.847+1G>A
XM_024454184.1:c.1048+1G>A	XP_024309952.1:n.1048+1G>A
NM_001135146.2:c.1048+1G>A MANE Select	NP_001128618.1:n.1048+1G>A
NM_001135148.2:c.847+1G>A	NP_001128620.1:n.847+1G>A