Canonical Allele Identifier: CA350550902

Gene: SLC11A1

Linked Data

• dbSNP Id: rs1162559913
• gnomAD v4: 2-218395025-C-A
• MyVariant Identifiers: chr2:g.219259748C>A (hg19) ; chr2:g.218395025C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000233202.11:c.1643C>A MANE Select	ENSP00000233202.6:p.Thr548Asn
ENST00000233202.10:c.1643C>A	ENSP00000233202.6:p.Thr548Asn
ENST00000354352.9:c.*1225C>A	ENSP00000346320.5:n.*1225C>A
ENST00000465984.5:n.2119C>A
ENST00000468221.5:n.4770C>A
NM_000578.3:c.1643C>A	NP_000569.3:p.Thr548Asn
XM_005246793.2:c.1442C>A	XP_005246850.1:p.Thr481Asn
XM_005246794.2:c.1289C>A	XP_005246851.1:p.Thr430Asn
XM_006712709.2:c.1289C>A	XP_006712772.1:p.Thr430Asn
XM_006712710.2:c.1289C>A	XP_006712773.1:p.Thr430Asn
XM_006712711.2:c.1196C>A	XP_006712774.1:p.Thr399Asn
XM_011511684.1:c.1316C>A	XP_011509986.1:p.Thr439Asn
XM_011511685.1:c.1316C>A	XP_011509987.1:p.Thr439Asn
XM_005246793.4:c.1442C>A	XP_005246850.1:p.Thr481Asn
XM_005246794.4:c.1289C>A	XP_005246851.1:p.Thr430Asn
XM_006712709.4:c.1289C>A	XP_006712772.1:p.Thr430Asn
XM_006712710.4:c.1289C>A	XP_006712773.1:p.Thr430Asn
XM_006712711.4:c.1196C>A	XP_006712774.1:p.Thr399Asn
XM_011511684.3:c.1316C>A	XP_011509986.1:p.Thr439Asn
XM_011511685.3:c.1316C>A	XP_011509987.1:p.Thr439Asn
XM_017004765.2:c.1520C>A	XP_016860254.1:p.Thr507Asn
XM_017004766.2:c.1442C>A	XP_016860255.1:p.Thr481Asn
XM_017004767.2:c.1274C>A	XP_016860256.1:p.Thr425Asn
XR_427107.3:n.2658C>A
XR_427108.4:n.2969C>A
NM_000578.4:c.1643C>A MANE Select	NP_000569.3:p.Thr548Asn