Canonical Allele Identifier: CA350550912

Gene: SLC11A1

Linked Data

• ClinVar Variation Id: 2604627
• ClinVar RCV Id: RCV003357257
• gnomAD v4: 2-218395027-T-C
• MyVariant Identifiers: chr2:g.219259750T>C (hg19) ; chr2:g.218395027T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218395027T>C , CM000664.2:g.218395027T>C	GRCh38
NC_000002.11:g.219259750T>C , CM000664.1:g.219259750T>C	GRCh37
NC_000002.10:g.218967994T>C	NCBI36
NG_012128.1:g.17999T>C
NG_030418.1:g.1690T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000233202.11:c.1645T>C MANE Select	ENSP00000233202.6:p.Ser549Pro
ENST00000233202.10:c.1645T>C	ENSP00000233202.6:p.Ser549Pro
ENST00000354352.9:c.*1227T>C	ENSP00000346320.5:n.*1227T>C
ENST00000465984.5:n.2121T>C
ENST00000468221.5:n.4772T>C
NM_000578.3:c.1645T>C	NP_000569.3:p.Ser549Pro
XM_005246793.2:c.1444T>C	XP_005246850.1:p.Ser482Pro
XM_005246794.2:c.1291T>C	XP_005246851.1:p.Ser431Pro
XM_006712709.2:c.1291T>C	XP_006712772.1:p.Ser431Pro
XM_006712710.2:c.1291T>C	XP_006712773.1:p.Ser431Pro
XM_006712711.2:c.1198T>C	XP_006712774.1:p.Ser400Pro
XM_011511684.1:c.1318T>C	XP_011509986.1:p.Ser440Pro
XM_011511685.1:c.1318T>C	XP_011509987.1:p.Ser440Pro
XM_005246793.4:c.1444T>C	XP_005246850.1:p.Ser482Pro
XM_005246794.4:c.1291T>C	XP_005246851.1:p.Ser431Pro
XM_006712709.4:c.1291T>C	XP_006712772.1:p.Ser431Pro
XM_006712710.4:c.1291T>C	XP_006712773.1:p.Ser431Pro
XM_006712711.4:c.1198T>C	XP_006712774.1:p.Ser400Pro
XM_011511684.3:c.1318T>C	XP_011509986.1:p.Ser440Pro
XM_011511685.3:c.1318T>C	XP_011509987.1:p.Ser440Pro
XM_017004765.2:c.1522T>C	XP_016860254.1:p.Ser508Pro
XM_017004766.2:c.1444T>C	XP_016860255.1:p.Ser482Pro
XM_017004767.2:c.1276T>C	XP_016860256.1:p.Ser426Pro
XR_427107.3:n.2660T>C
XR_427108.4:n.2971T>C
NM_000578.4:c.1645T>C MANE Select	NP_000569.3:p.Ser549Pro