Canonical Allele Identifier: CA350550682

Gene: SLC11A1

Linked Data

• MyVariant Identifiers: chr2:g.219259662C>G (hg19) ; chr2:g.218394939C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218394939C>G , CM000664.2:g.218394939C>G	GRCh38
NC_000002.11:g.219259662C>G , CM000664.1:g.219259662C>G	GRCh37
NC_000002.10:g.218967906C>G	NCBI36
NG_012128.1:g.17911C>G
NG_030418.1:g.1602C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233202.11:c.1557C>G MANE Select	ENSP00000233202.6:p.Cys519Trp
ENST00000233202.10:c.1557C>G	ENSP00000233202.6:p.Cys519Trp
ENST00000354352.9:c.*1139C>G	ENSP00000346320.5:n.*1139C>G
ENST00000465984.5:n.2033C>G
ENST00000468221.5:n.4684C>G
NM_000578.3:c.1557C>G	NP_000569.3:p.Cys519Trp
XM_005246793.2:c.1356C>G	XP_005246850.1:p.Cys452Trp
XM_005246794.2:c.1203C>G	XP_005246851.1:p.Cys401Trp
XM_006712709.2:c.1203C>G	XP_006712772.1:p.Cys401Trp
XM_006712710.2:c.1203C>G	XP_006712773.1:p.Cys401Trp
XM_006712711.2:c.1110C>G	XP_006712774.1:p.Cys370Trp
XM_011511684.1:c.1230C>G	XP_011509986.1:p.Cys410Trp
XM_011511685.1:c.1230C>G	XP_011509987.1:p.Cys410Trp
XM_005246793.4:c.1356C>G	XP_005246850.1:p.Cys452Trp
XM_005246794.4:c.1203C>G	XP_005246851.1:p.Cys401Trp
XM_006712709.4:c.1203C>G	XP_006712772.1:p.Cys401Trp
XM_006712710.4:c.1203C>G	XP_006712773.1:p.Cys401Trp
XM_006712711.4:c.1110C>G	XP_006712774.1:p.Cys370Trp
XM_011511684.3:c.1230C>G	XP_011509986.1:p.Cys410Trp
XM_011511685.3:c.1230C>G	XP_011509987.1:p.Cys410Trp
XM_017004765.2:c.1434C>G	XP_016860254.1:p.Cys478Trp
XM_017004766.2:c.1356C>G	XP_016860255.1:p.Cys452Trp
XM_017004767.2:c.1188C>G	XP_016860256.1:p.Cys396Trp
XR_427107.3:n.2572C>G
XR_427108.4:n.2883C>G
NM_000578.4:c.1557C>G MANE Select	NP_000569.3:p.Cys519Trp