Canonical Allele Identifier: CA350550889

Gene: SLC11A1

Linked Data

• gnomAD v4: 2-218395022-A-G
• MyVariant Identifiers: chr2:g.219259745A>G (hg19) ; chr2:g.218395022A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218395022A>G , CM000664.2:g.218395022A>G	GRCh38
NC_000002.11:g.219259745A>G , CM000664.1:g.219259745A>G	GRCh37
NC_000002.10:g.218967989A>G	NCBI36
NG_012128.1:g.17994A>G
NG_030418.1:g.1685A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000233202.11:c.1640A>G MANE Select	ENSP00000233202.6:p.Glu547Gly
ENST00000233202.10:c.1640A>G	ENSP00000233202.6:p.Glu547Gly
ENST00000354352.9:c.*1222A>G	ENSP00000346320.5:n.*1222A>G
ENST00000465984.5:n.2116A>G
ENST00000468221.5:n.4767A>G
NM_000578.3:c.1640A>G	NP_000569.3:p.Glu547Gly
XM_005246793.2:c.1439A>G	XP_005246850.1:p.Glu480Gly
XM_005246794.2:c.1286A>G	XP_005246851.1:p.Glu429Gly
XM_006712709.2:c.1286A>G	XP_006712772.1:p.Glu429Gly
XM_006712710.2:c.1286A>G	XP_006712773.1:p.Glu429Gly
XM_006712711.2:c.1193A>G	XP_006712774.1:p.Glu398Gly
XM_011511684.1:c.1313A>G	XP_011509986.1:p.Glu438Gly
XM_011511685.1:c.1313A>G	XP_011509987.1:p.Glu438Gly
XM_005246793.4:c.1439A>G	XP_005246850.1:p.Glu480Gly
XM_005246794.4:c.1286A>G	XP_005246851.1:p.Glu429Gly
XM_006712709.4:c.1286A>G	XP_006712772.1:p.Glu429Gly
XM_006712710.4:c.1286A>G	XP_006712773.1:p.Glu429Gly
XM_006712711.4:c.1193A>G	XP_006712774.1:p.Glu398Gly
XM_011511684.3:c.1313A>G	XP_011509986.1:p.Glu438Gly
XM_011511685.3:c.1313A>G	XP_011509987.1:p.Glu438Gly
XM_017004765.2:c.1517A>G	XP_016860254.1:p.Glu506Gly
XM_017004766.2:c.1439A>G	XP_016860255.1:p.Glu480Gly
XM_017004767.2:c.1271A>G	XP_016860256.1:p.Glu424Gly
XR_427107.3:n.2655A>G
XR_427108.4:n.2966A>G
NM_000578.4:c.1640A>G MANE Select	NP_000569.3:p.Glu547Gly