Canonical Allele Identifier: CA431224274

Gene: SLC11A1

Linked Data

• MyVariant Identifiers: chr2:g.219259752T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218395029T>A , CM000664.2:g.218395029T>A	GRCh38
NC_000002.11:g.219259752T>A , CM000664.1:g.219259752T>A	GRCh37
NC_000002.10:g.218967996T>A	NCBI36
NG_012128.1:g.18001T>A
NG_030418.1:g.1692T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000233202.11:c.1647T>A MANE Select	ENSP00000233202.6:p.Ser549=
ENST00000233202.10:c.1647T>A	ENSP00000233202.6:p.Ser549=
ENST00000354352.9:c.*1229T>A	ENSP00000346320.5:n.*1229T>A
ENST00000465984.5:n.2123T>A
ENST00000468221.5:n.4774T>A
NM_000578.3:c.1647T>A	NP_000569.3:p.Ser549=
XM_005246793.2:c.1446T>A	XP_005246850.1:p.Ser482=
XM_005246794.2:c.1293T>A	XP_005246851.1:p.Ser431=
XM_006712709.2:c.1293T>A	XP_006712772.1:p.Ser431=
XM_006712710.2:c.1293T>A	XP_006712773.1:p.Ser431=
XM_006712711.2:c.1200T>A	XP_006712774.1:p.Ser400=
XM_011511684.1:c.1320T>A	XP_011509986.1:p.Ser440=
XM_011511685.1:c.1320T>A	XP_011509987.1:p.Ser440=
XM_005246793.4:c.1446T>A	XP_005246850.1:p.Ser482=
XM_005246794.4:c.1293T>A	XP_005246851.1:p.Ser431=
XM_006712709.4:c.1293T>A	XP_006712772.1:p.Ser431=
XM_006712710.4:c.1293T>A	XP_006712773.1:p.Ser431=
XM_006712711.4:c.1200T>A	XP_006712774.1:p.Ser400=
XM_011511684.3:c.1320T>A	XP_011509986.1:p.Ser440=
XM_011511685.3:c.1320T>A	XP_011509987.1:p.Ser440=
XM_017004765.2:c.1524T>A	XP_016860254.1:p.Ser508=
XM_017004766.2:c.1446T>A	XP_016860255.1:p.Ser482=
XM_017004767.2:c.1278T>A	XP_016860256.1:p.Ser426=
XR_427107.3:n.2662T>A
XR_427108.4:n.2973T>A
NM_000578.4:c.1647T>A MANE Select	NP_000569.3:p.Ser549=