Canonical Allele Identifier: CA431217298

Gene: SLC11A1

Linked Data

• dbSNP Id: rs1343451640
• gnomAD v2: 2-219248968-C-A
• MyVariant Identifiers: chr2:g.219248968C>A (hg19) ; chr2:g.218384245C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218384245C>A , CM000664.2:g.218384245C>A	GRCh38
NC_000002.11:g.219248968C>A , CM000664.1:g.219248968C>A	GRCh37
NC_000002.10:g.218957212C>A	NCBI36
NG_012128.1:g.7217C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233202.11:c.153C>A MANE Select	ENSP00000233202.6:p.Gly51=
ENST00000233202.10:c.153C>A	ENSP00000233202.6:p.Gly51=
ENST00000354352.9:c.153C>A	ENSP00000346320.5:p.Gly51=
ENST00000465984.5:n.332-902C>A
ENST00000468221.5:n.1633C>A
ENST00000469449.1:n.559C>A
ENST00000469799.5:n.98-902C>A
ENST00000471875.5:n.100C>A
ENST00000473367.5:c.151-74C>A	ENSP00000484905.1:n.151-74C>A
ENST00000475225.5:n.186-74C>A
ENST00000481524.5:c.8-902C>A	ENSP00000483970.1:n.8-902C>A
ENST00000483487.2:n.79C>A
ENST00000492413.5:n.235C>A
ENST00000494322.5:n.249C>A
ENST00000539932.5:c.10C>A	ENSP00000443435.2:p.His4Asn
NM_000578.3:c.153C>A	NP_000569.3:p.Gly51=
XM_005246793.2:c.-49C>A	XP_005246850.1:n.-49C>A
XM_005246794.2:c.-276C>A	XP_005246851.1:n.-276C>A
XM_006712709.2:c.-276C>A	XP_006712772.1:n.-276C>A
XM_006712710.2:c.-155-902C>A	XP_006712773.1:n.-155-902C>A
XM_006712711.2:c.-174-902C>A	XP_006712774.1:n.-174-902C>A
XM_011511684.1:c.-284C>A	XP_011509986.1:n.-284C>A
XM_011511685.1:c.-284C>A	XP_011509987.1:n.-284C>A
XR_427107.1:n.316C>A
XR_427108.2:n.613C>A
XM_005246793.4:c.-49C>A	XP_005246850.1:n.-49C>A
XM_005246794.4:c.-276C>A	XP_005246851.1:n.-276C>A
XM_006712709.4:c.-276C>A	XP_006712772.1:n.-276C>A
XM_006712710.4:c.-155-902C>A	XP_006712773.1:n.-155-902C>A
XM_006712711.4:c.-174-902C>A	XP_006712774.1:n.-174-902C>A
XM_011511684.3:c.-284C>A	XP_011509986.1:n.-284C>A
XM_011511685.3:c.-284C>A	XP_011509987.1:n.-284C>A
XM_017004765.2:c.151-902C>A	XP_016860254.1:n.151-902C>A
XM_017004766.2:c.-49C>A	XP_016860255.1:n.-49C>A
XM_017004767.2:c.153C>A	XP_016860256.1:p.Gly51=
XR_427107.3:n.302C>A
XR_427108.4:n.613C>A
NM_000578.4:c.153C>A MANE Select	NP_000569.3:p.Gly51=