Canonical Allele Identifier: CA350550689

Gene: SLC11A1

Linked Data

• dbSNP Id: rs1696675829
• MyVariant Identifiers: chr2:g.219259666G>T (hg19) ; chr2:g.218394943G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233202.11:c.1561G>T MANE Select	ENSP00000233202.6:p.Ala521Ser
ENST00000233202.10:c.1561G>T	ENSP00000233202.6:p.Ala521Ser
ENST00000354352.9:c.*1143G>T	ENSP00000346320.5:n.*1143G>T
ENST00000465984.5:n.2037G>T
ENST00000468221.5:n.4688G>T
NM_000578.3:c.1561G>T	NP_000569.3:p.Ala521Ser
XM_005246793.2:c.1360G>T	XP_005246850.1:p.Ala454Ser
XM_005246794.2:c.1207G>T	XP_005246851.1:p.Ala403Ser
XM_006712709.2:c.1207G>T	XP_006712772.1:p.Ala403Ser
XM_006712710.2:c.1207G>T	XP_006712773.1:p.Ala403Ser
XM_006712711.2:c.1114G>T	XP_006712774.1:p.Ala372Ser
XM_011511684.1:c.1234G>T	XP_011509986.1:p.Ala412Ser
XM_011511685.1:c.1234G>T	XP_011509987.1:p.Ala412Ser
XM_005246793.4:c.1360G>T	XP_005246850.1:p.Ala454Ser
XM_005246794.4:c.1207G>T	XP_005246851.1:p.Ala403Ser
XM_006712709.4:c.1207G>T	XP_006712772.1:p.Ala403Ser
XM_006712710.4:c.1207G>T	XP_006712773.1:p.Ala403Ser
XM_006712711.4:c.1114G>T	XP_006712774.1:p.Ala372Ser
XM_011511684.3:c.1234G>T	XP_011509986.1:p.Ala412Ser
XM_011511685.3:c.1234G>T	XP_011509987.1:p.Ala412Ser
XM_017004765.2:c.1438G>T	XP_016860254.1:p.Ala480Ser
XM_017004766.2:c.1360G>T	XP_016860255.1:p.Ala454Ser
XM_017004767.2:c.1192G>T	XP_016860256.1:p.Ala398Ser
XR_427107.3:n.2576G>T
XR_427108.4:n.2887G>T
NM_000578.4:c.1561G>T MANE Select	NP_000569.3:p.Ala521Ser