Canonical Allele Identifier: CA2105420

Gene: SLC11A1

Linked Data

• dbSNP Id: rs751683612
• ExAC: 2:219259655 C / T
• gnomAD v2: 2-219259655-C-T
• gnomAD v3: 2-218394932-C-T
• gnomAD v4: 2-218394932-C-T
• MyVariant Identifiers: chr2:g.219259655C>T (hg19) ; chr2:g.218394932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218394932C>T , CM000664.2:g.218394932C>T	GRCh38
NC_000002.11:g.219259655C>T , CM000664.1:g.219259655C>T	GRCh37
NC_000002.10:g.218967899C>T	NCBI36
NG_012128.1:g.17904C>T
NG_030418.1:g.1595C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233202.11:c.1550C>T MANE Select	ENSP00000233202.6:p.Thr517Ile
ENST00000233202.10:c.1550C>T	ENSP00000233202.6:p.Thr517Ile
ENST00000354352.9:c.*1132C>T	ENSP00000346320.5:n.*1132C>T
ENST00000465984.5:n.2026C>T
ENST00000468221.5:n.4677C>T
NM_000578.3:c.1550C>T	NP_000569.3:p.Thr517Ile
XM_005246793.2:c.1349C>T	XP_005246850.1:p.Thr450Ile
XM_005246794.2:c.1196C>T	XP_005246851.1:p.Thr399Ile
XM_006712709.2:c.1196C>T	XP_006712772.1:p.Thr399Ile
XM_006712710.2:c.1196C>T	XP_006712773.1:p.Thr399Ile
XM_006712711.2:c.1103C>T	XP_006712774.1:p.Thr368Ile
XM_011511684.1:c.1223C>T	XP_011509986.1:p.Thr408Ile
XM_011511685.1:c.1223C>T	XP_011509987.1:p.Thr408Ile
XM_005246793.4:c.1349C>T	XP_005246850.1:p.Thr450Ile
XM_005246794.4:c.1196C>T	XP_005246851.1:p.Thr399Ile
XM_006712709.4:c.1196C>T	XP_006712772.1:p.Thr399Ile
XM_006712710.4:c.1196C>T	XP_006712773.1:p.Thr399Ile
XM_006712711.4:c.1103C>T	XP_006712774.1:p.Thr368Ile
XM_011511684.3:c.1223C>T	XP_011509986.1:p.Thr408Ile
XM_011511685.3:c.1223C>T	XP_011509987.1:p.Thr408Ile
XM_017004765.2:c.1427C>T	XP_016860254.1:p.Thr476Ile
XM_017004766.2:c.1349C>T	XP_016860255.1:p.Thr450Ile
XM_017004767.2:c.1181C>T	XP_016860256.1:p.Thr394Ile
XR_427107.3:n.2565C>T
XR_427108.4:n.2876C>T
NM_000578.4:c.1550C>T MANE Select	NP_000569.3:p.Thr517Ile