Canonical Allele Identifier: CA120239

Gene: SLC11A1

Linked Data

• ClinVar Variation Id: 9233
• ClinVar RCV Id: RCV000009814
• dbSNP Id: rs17235409
• ExAC: 2:219259732 G / A
• gnomAD v2: 2-219259732-G-A
• gnomAD v3: 2-218395009-G-A
• gnomAD v4: 2-218395009-G-A
• MyVariant Identifiers: chr2:g.219259732G>A (hg19) ; chr2:g.218395009G>A (hg38)
• PubMed: PMID:16395392

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218395009G>A , CM000664.2:g.218395009G>A	GRCh38
NC_000002.11:g.219259732G>A , CM000664.1:g.219259732G>A	GRCh37
NC_000002.10:g.218967976G>A	NCBI36
NG_012128.1:g.17981G>A
NG_030418.1:g.1672G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233202.11:c.1627G>A MANE Select	ENSP00000233202.6:p.Asp543Asn
ENST00000233202.10:c.1627G>A	ENSP00000233202.6:p.Asp543Asn
ENST00000354352.9:c.*1209G>A	ENSP00000346320.5:n.*1209G>A
ENST00000465984.5:n.2103G>A
ENST00000468221.5:n.4754G>A
NM_000578.3:c.1627G>A	NP_000569.3:p.Asp543Asn
XM_005246793.2:c.1426G>A	XP_005246850.1:p.Asp476Asn
XM_005246794.2:c.1273G>A	XP_005246851.1:p.Asp425Asn
XM_006712709.2:c.1273G>A	XP_006712772.1:p.Asp425Asn
XM_006712710.2:c.1273G>A	XP_006712773.1:p.Asp425Asn
XM_006712711.2:c.1180G>A	XP_006712774.1:p.Asp394Asn
XM_011511684.1:c.1300G>A	XP_011509986.1:p.Asp434Asn
XM_011511685.1:c.1300G>A	XP_011509987.1:p.Asp434Asn
XM_005246793.4:c.1426G>A	XP_005246850.1:p.Asp476Asn
XM_005246794.4:c.1273G>A	XP_005246851.1:p.Asp425Asn
XM_006712709.4:c.1273G>A	XP_006712772.1:p.Asp425Asn
XM_006712710.4:c.1273G>A	XP_006712773.1:p.Asp425Asn
XM_006712711.4:c.1180G>A	XP_006712774.1:p.Asp394Asn
XM_011511684.3:c.1300G>A	XP_011509986.1:p.Asp434Asn
XM_011511685.3:c.1300G>A	XP_011509987.1:p.Asp434Asn
XM_017004765.2:c.1504G>A	XP_016860254.1:p.Asp502Asn
XM_017004766.2:c.1426G>A	XP_016860255.1:p.Asp476Asn
XM_017004767.2:c.1258G>A	XP_016860256.1:p.Asp420Asn
XR_427107.3:n.2642G>A
XR_427108.4:n.2953G>A
NM_000578.4:c.1627G>A MANE Select	NP_000569.3:p.Asp543Asn