Canonical Allele Identifier: CA350550920

Gene: SLC11A1

Linked Data

• dbSNP Id: rs1363283343
• gnomAD v2: 2-219259753-G-A
• MyVariant Identifiers: chr2:g.219259753G>A (hg19) ; chr2:g.218395030G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218395030G>A , CM000664.2:g.218395030G>A	GRCh38
NC_000002.11:g.219259753G>A , CM000664.1:g.219259753G>A	GRCh37
NC_000002.10:g.218967997G>A	NCBI36
NG_012128.1:g.18002G>A
NG_030418.1:g.1693G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000233202.11:c.1648G>A MANE Select	ENSP00000233202.6:p.Gly550Ser
ENST00000233202.10:c.1648G>A	ENSP00000233202.6:p.Gly550Ser
ENST00000354352.9:c.*1230G>A	ENSP00000346320.5:n.*1230G>A
ENST00000465984.5:n.2124G>A
ENST00000468221.5:n.4775G>A
NM_000578.3:c.1648G>A	NP_000569.3:p.Gly550Ser
XM_005246793.2:c.1447G>A	XP_005246850.1:p.Gly483Ser
XM_005246794.2:c.1294G>A	XP_005246851.1:p.Gly432Ser
XM_006712709.2:c.1294G>A	XP_006712772.1:p.Gly432Ser
XM_006712710.2:c.1294G>A	XP_006712773.1:p.Gly432Ser
XM_006712711.2:c.1201G>A	XP_006712774.1:p.Gly401Ser
XM_011511684.1:c.1321G>A	XP_011509986.1:p.Gly441Ser
XM_011511685.1:c.1321G>A	XP_011509987.1:p.Gly441Ser
XM_005246793.4:c.1447G>A	XP_005246850.1:p.Gly483Ser
XM_005246794.4:c.1294G>A	XP_005246851.1:p.Gly432Ser
XM_006712709.4:c.1294G>A	XP_006712772.1:p.Gly432Ser
XM_006712710.4:c.1294G>A	XP_006712773.1:p.Gly432Ser
XM_006712711.4:c.1201G>A	XP_006712774.1:p.Gly401Ser
XM_011511684.3:c.1321G>A	XP_011509986.1:p.Gly441Ser
XM_011511685.3:c.1321G>A	XP_011509987.1:p.Gly441Ser
XM_017004765.2:c.1525G>A	XP_016860254.1:p.Gly509Ser
XM_017004766.2:c.1447G>A	XP_016860255.1:p.Gly483Ser
XM_017004767.2:c.1279G>A	XP_016860256.1:p.Gly427Ser
XR_427107.3:n.2663G>A
XR_427108.4:n.2974G>A
NM_000578.4:c.1648G>A MANE Select	NP_000569.3:p.Gly550Ser