Canonical Allele Identifier: CA350541786

Gene: SLC11A1

Linked Data

• MyVariant Identifiers: chr2:g.219248992G>T (hg19) ; chr2:g.218384269G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218384269G>T , CM000664.2:g.218384269G>T	GRCh38
NC_000002.11:g.219248992G>T , CM000664.1:g.219248992G>T	GRCh37
NC_000002.10:g.218957236G>T	NCBI36
NG_012128.1:g.7241G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233202.11:c.177G>T MANE Select	ENSP00000233202.6:p.Trp59Cys
ENST00000233202.10:c.177G>T	ENSP00000233202.6:p.Trp59Cys
ENST00000354352.9:c.177G>T	ENSP00000346320.5:p.Trp59Cys
ENST00000465984.5:n.332-878G>T
ENST00000468221.5:n.1657G>T
ENST00000469449.1:n.583G>T
ENST00000469799.5:n.98-878G>T
ENST00000471875.5:n.124G>T
ENST00000473367.5:c.151-50G>T	ENSP00000484905.1:n.151-50G>T
ENST00000475225.5:n.186-50G>T
ENST00000481524.5:c.8-878G>T	ENSP00000483970.1:n.8-878G>T
ENST00000483487.2:n.103G>T
ENST00000492413.5:n.259G>T
ENST00000494322.5:n.273G>T
ENST00000539932.5:c.34G>T	ENSP00000443435.2:p.Gly12Cys
NM_000578.3:c.177G>T	NP_000569.3:p.Trp59Cys
XM_005246793.2:c.-25G>T	XP_005246850.1:n.-25G>T
XM_005246794.2:c.-252G>T	XP_005246851.1:n.-252G>T
XM_006712709.2:c.-252G>T	XP_006712772.1:n.-252G>T
XM_006712710.2:c.-155-878G>T	XP_006712773.1:n.-155-878G>T
XM_006712711.2:c.-174-878G>T	XP_006712774.1:n.-174-878G>T
XM_011511684.1:c.-260G>T	XP_011509986.1:n.-260G>T
XM_011511685.1:c.-260G>T	XP_011509987.1:n.-260G>T
XR_427107.1:n.340G>T
XR_427108.2:n.637G>T
XM_005246793.4:c.-25G>T	XP_005246850.1:n.-25G>T
XM_005246794.4:c.-252G>T	XP_005246851.1:n.-252G>T
XM_006712709.4:c.-252G>T	XP_006712772.1:n.-252G>T
XM_006712710.4:c.-155-878G>T	XP_006712773.1:n.-155-878G>T
XM_006712711.4:c.-174-878G>T	XP_006712774.1:n.-174-878G>T
XM_011511684.3:c.-260G>T	XP_011509986.1:n.-260G>T
XM_011511685.3:c.-260G>T	XP_011509987.1:n.-260G>T
XM_017004765.2:c.151-878G>T	XP_016860254.1:n.151-878G>T
XM_017004766.2:c.-25G>T	XP_016860255.1:n.-25G>T
XM_017004767.2:c.177G>T	XP_016860256.1:p.Trp59Cys
XR_427107.3:n.326G>T
XR_427108.4:n.637G>T
NM_000578.4:c.177G>T MANE Select	NP_000569.3:p.Trp59Cys