Canonical Allele Identifier: CA350550915

Gene: SLC11A1

Linked Data

• MyVariant Identifiers: chr2:g.219259751C>G (hg19) ; chr2:g.218395028C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218395028C>G , CM000664.2:g.218395028C>G	GRCh38
NC_000002.11:g.219259751C>G , CM000664.1:g.219259751C>G	GRCh37
NC_000002.10:g.218967995C>G	NCBI36
NG_012128.1:g.18000C>G
NG_030418.1:g.1691C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000233202.11:c.1646C>G MANE Select	ENSP00000233202.6:p.Ser549Cys
ENST00000233202.10:c.1646C>G	ENSP00000233202.6:p.Ser549Cys
ENST00000354352.9:c.*1228C>G	ENSP00000346320.5:n.*1228C>G
ENST00000465984.5:n.2122C>G
ENST00000468221.5:n.4773C>G
NM_000578.3:c.1646C>G	NP_000569.3:p.Ser549Cys
XM_005246793.2:c.1445C>G	XP_005246850.1:p.Ser482Cys
XM_005246794.2:c.1292C>G	XP_005246851.1:p.Ser431Cys
XM_006712709.2:c.1292C>G	XP_006712772.1:p.Ser431Cys
XM_006712710.2:c.1292C>G	XP_006712773.1:p.Ser431Cys
XM_006712711.2:c.1199C>G	XP_006712774.1:p.Ser400Cys
XM_011511684.1:c.1319C>G	XP_011509986.1:p.Ser440Cys
XM_011511685.1:c.1319C>G	XP_011509987.1:p.Ser440Cys
XM_005246793.4:c.1445C>G	XP_005246850.1:p.Ser482Cys
XM_005246794.4:c.1292C>G	XP_005246851.1:p.Ser431Cys
XM_006712709.4:c.1292C>G	XP_006712772.1:p.Ser431Cys
XM_006712710.4:c.1292C>G	XP_006712773.1:p.Ser431Cys
XM_006712711.4:c.1199C>G	XP_006712774.1:p.Ser400Cys
XM_011511684.3:c.1319C>G	XP_011509986.1:p.Ser440Cys
XM_011511685.3:c.1319C>G	XP_011509987.1:p.Ser440Cys
XM_017004765.2:c.1523C>G	XP_016860254.1:p.Ser508Cys
XM_017004766.2:c.1445C>G	XP_016860255.1:p.Ser482Cys
XM_017004767.2:c.1277C>G	XP_016860256.1:p.Ser426Cys
XR_427107.3:n.2661C>G
XR_427108.4:n.2972C>G
NM_000578.4:c.1646C>G MANE Select	NP_000569.3:p.Ser549Cys