Canonical Allele Identifier: CA350550903

Gene: SLC11A1

Linked Data

• MyVariant Identifiers: chr2:g.219259748C>G (hg19) ; chr2:g.218395025C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218395025C>G , CM000664.2:g.218395025C>G	GRCh38
NC_000002.11:g.219259748C>G , CM000664.1:g.219259748C>G	GRCh37
NC_000002.10:g.218967992C>G	NCBI36
NG_012128.1:g.17997C>G
NG_030418.1:g.1688C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000233202.11:c.1643C>G MANE Select	ENSP00000233202.6:p.Thr548Ser
ENST00000233202.10:c.1643C>G	ENSP00000233202.6:p.Thr548Ser
ENST00000354352.9:c.*1225C>G	ENSP00000346320.5:n.*1225C>G
ENST00000465984.5:n.2119C>G
ENST00000468221.5:n.4770C>G
NM_000578.3:c.1643C>G	NP_000569.3:p.Thr548Ser
XM_005246793.2:c.1442C>G	XP_005246850.1:p.Thr481Ser
XM_005246794.2:c.1289C>G	XP_005246851.1:p.Thr430Ser
XM_006712709.2:c.1289C>G	XP_006712772.1:p.Thr430Ser
XM_006712710.2:c.1289C>G	XP_006712773.1:p.Thr430Ser
XM_006712711.2:c.1196C>G	XP_006712774.1:p.Thr399Ser
XM_011511684.1:c.1316C>G	XP_011509986.1:p.Thr439Ser
XM_011511685.1:c.1316C>G	XP_011509987.1:p.Thr439Ser
XM_005246793.4:c.1442C>G	XP_005246850.1:p.Thr481Ser
XM_005246794.4:c.1289C>G	XP_005246851.1:p.Thr430Ser
XM_006712709.4:c.1289C>G	XP_006712772.1:p.Thr430Ser
XM_006712710.4:c.1289C>G	XP_006712773.1:p.Thr430Ser
XM_006712711.4:c.1196C>G	XP_006712774.1:p.Thr399Ser
XM_011511684.3:c.1316C>G	XP_011509986.1:p.Thr439Ser
XM_011511685.3:c.1316C>G	XP_011509987.1:p.Thr439Ser
XM_017004765.2:c.1520C>G	XP_016860254.1:p.Thr507Ser
XM_017004766.2:c.1442C>G	XP_016860255.1:p.Thr481Ser
XM_017004767.2:c.1274C>G	XP_016860256.1:p.Thr425Ser
XR_427107.3:n.2658C>G
XR_427108.4:n.2969C>G
NM_000578.4:c.1643C>G MANE Select	NP_000569.3:p.Thr548Ser