Canonical Allele Identifier: CA350541827

Gene: SLC11A1

Linked Data

• MyVariant Identifiers: chr2:g.219249012T>C (hg19) ; chr2:g.218384289T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218384289T>C , CM000664.2:g.218384289T>C	GRCh38
NC_000002.11:g.219249012T>C , CM000664.1:g.219249012T>C	GRCh37
NC_000002.10:g.218957256T>C	NCBI36
NG_012128.1:g.7261T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233202.11:c.197T>C MANE Select	ENSP00000233202.6:p.Phe66Ser
ENST00000233202.10:c.197T>C	ENSP00000233202.6:p.Phe66Ser
ENST00000354352.9:c.197T>C	ENSP00000346320.5:p.Phe66Ser
ENST00000465984.5:n.332-858T>C
ENST00000468221.5:n.1677T>C
ENST00000469449.1:n.603T>C
ENST00000469799.5:n.98-858T>C
ENST00000471875.5:n.144T>C
ENST00000473367.5:c.151-30T>C	ENSP00000484905.1:n.151-30T>C
ENST00000475225.5:n.186-30T>C
ENST00000481524.5:c.8-858T>C	ENSP00000483970.1:n.8-858T>C
ENST00000483487.2:n.123T>C
ENST00000492413.5:n.279T>C
ENST00000494322.5:n.293T>C
ENST00000539932.5:c.54T>C	ENSP00000443435.2:p.Leu18=
NM_000578.3:c.197T>C	NP_000569.3:p.Phe66Ser
XM_005246793.2:c.-5T>C	XP_005246850.1:n.-5T>C
XM_005246794.2:c.-232T>C	XP_005246851.1:n.-232T>C
XM_006712709.2:c.-232T>C	XP_006712772.1:n.-232T>C
XM_006712710.2:c.-155-858T>C	XP_006712773.1:n.-155-858T>C
XM_006712711.2:c.-174-858T>C	XP_006712774.1:n.-174-858T>C
XM_011511684.1:c.-240T>C	XP_011509986.1:n.-240T>C
XM_011511685.1:c.-240T>C	XP_011509987.1:n.-240T>C
XR_427107.1:n.360T>C
XR_427108.2:n.657T>C
XM_005246793.4:c.-5T>C	XP_005246850.1:n.-5T>C
XM_005246794.4:c.-232T>C	XP_005246851.1:n.-232T>C
XM_006712709.4:c.-232T>C	XP_006712772.1:n.-232T>C
XM_006712710.4:c.-155-858T>C	XP_006712773.1:n.-155-858T>C
XM_006712711.4:c.-174-858T>C	XP_006712774.1:n.-174-858T>C
XM_011511684.3:c.-240T>C	XP_011509986.1:n.-240T>C
XM_011511685.3:c.-240T>C	XP_011509987.1:n.-240T>C
XM_017004765.2:c.151-858T>C	XP_016860254.1:n.151-858T>C
XM_017004766.2:c.-5T>C	XP_016860255.1:n.-5T>C
XM_017004767.2:c.197T>C	XP_016860256.1:p.Phe66Ser
XR_427107.3:n.346T>C
XR_427108.4:n.657T>C
NM_000578.4:c.197T>C MANE Select	NP_000569.3:p.Phe66Ser