Canonical Allele Identifier: CA350550688

Gene: SLC11A1

Linked Data

• MyVariant Identifiers: chr2:g.219259666G>A (hg19) ; chr2:g.218394943G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218394943G>A , CM000664.2:g.218394943G>A	GRCh38
NC_000002.11:g.219259666G>A , CM000664.1:g.219259666G>A	GRCh37
NC_000002.10:g.218967910G>A	NCBI36
NG_012128.1:g.17915G>A
NG_030418.1:g.1606G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000233202.11:c.1561G>A MANE Select	ENSP00000233202.6:p.Ala521Thr
ENST00000233202.10:c.1561G>A	ENSP00000233202.6:p.Ala521Thr
ENST00000354352.9:c.*1143G>A	ENSP00000346320.5:n.*1143G>A
ENST00000465984.5:n.2037G>A
ENST00000468221.5:n.4688G>A
NM_000578.3:c.1561G>A	NP_000569.3:p.Ala521Thr
XM_005246793.2:c.1360G>A	XP_005246850.1:p.Ala454Thr
XM_005246794.2:c.1207G>A	XP_005246851.1:p.Ala403Thr
XM_006712709.2:c.1207G>A	XP_006712772.1:p.Ala403Thr
XM_006712710.2:c.1207G>A	XP_006712773.1:p.Ala403Thr
XM_006712711.2:c.1114G>A	XP_006712774.1:p.Ala372Thr
XM_011511684.1:c.1234G>A	XP_011509986.1:p.Ala412Thr
XM_011511685.1:c.1234G>A	XP_011509987.1:p.Ala412Thr
XM_005246793.4:c.1360G>A	XP_005246850.1:p.Ala454Thr
XM_005246794.4:c.1207G>A	XP_005246851.1:p.Ala403Thr
XM_006712709.4:c.1207G>A	XP_006712772.1:p.Ala403Thr
XM_006712710.4:c.1207G>A	XP_006712773.1:p.Ala403Thr
XM_006712711.4:c.1114G>A	XP_006712774.1:p.Ala372Thr
XM_011511684.3:c.1234G>A	XP_011509986.1:p.Ala412Thr
XM_011511685.3:c.1234G>A	XP_011509987.1:p.Ala412Thr
XM_017004765.2:c.1438G>A	XP_016860254.1:p.Ala480Thr
XM_017004766.2:c.1360G>A	XP_016860255.1:p.Ala454Thr
XM_017004767.2:c.1192G>A	XP_016860256.1:p.Ala398Thr
XR_427107.3:n.2576G>A
XR_427108.4:n.2887G>A
NM_000578.4:c.1561G>A MANE Select	NP_000569.3:p.Ala521Thr