Canonical Allele Identifier: CA2105048
Gene: SLC11A1 HGNC NCBI

Linked Data

dbSNP Id: rs17221959

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218387907C>T , CM000664.2:g.218387907C>T GRCh38
NC_000002.11:g.219252630C>T , CM000664.1:g.219252630C>T GRCh37
NC_000002.10:g.218960874C>T NCBI36
NG_012128.1:g.10879C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000233202.11:c.747C>T MANE Select ENSP00000233202.6:p.Gly249=
ENST00000233202.10:c.747C>T ENSP00000233202.6:p.Gly249=
ENST00000354352.9:c.*329C>T ENSP00000346320.5:n.*329C>T
ENST00000465984.5:n.1223C>T
ENST00000468221.5:n.3008C>T
ENST00000469449.1:n.1957C>T
ENST00000475225.5:n.1124C>T
ENST00000494322.5:n.843C>T
ENST00000539932.5:c.*355C>T ENSP00000443435.2:n.*355C>T
NM_000578.3:c.747C>T NP_000569.3:p.Gly249=
XM_005246793.2:c.546C>T XP_005246850.1:p.Gly182=
XM_005246794.2:c.393C>T XP_005246851.1:p.Gly131=
XM_006712709.2:c.393C>T XP_006712772.1:p.Gly131=
XM_006712710.2:c.393C>T XP_006712773.1:p.Gly131=
XM_006712711.2:c.300C>T XP_006712774.1:p.Gly100=
XM_011511684.1:c.420C>T XP_011509986.1:p.Gly140=
XM_011511685.1:c.420C>T XP_011509987.1:p.Gly140=
XR_427107.1:n.910C>T
XR_427108.2:n.1207C>T
XM_005246793.4:c.546C>T XP_005246850.1:p.Gly182=
XM_005246794.4:c.393C>T XP_005246851.1:p.Gly131=
XM_006712709.4:c.393C>T XP_006712772.1:p.Gly131=
XM_006712710.4:c.393C>T XP_006712773.1:p.Gly131=
XM_006712711.4:c.300C>T XP_006712774.1:p.Gly100=
XM_011511684.3:c.420C>T XP_011509986.1:p.Gly140=
XM_011511685.3:c.420C>T XP_011509987.1:p.Gly140=
XM_017004765.2:c.624C>T XP_016860254.1:p.Gly208=
XM_017004766.2:c.546C>T XP_016860255.1:p.Gly182=
XM_017004767.2:c.747C>T XP_016860256.1:p.Gly249=
XR_427107.3:n.896C>T
XR_427108.4:n.1207C>T
NM_000578.4:c.747C>T MANE Select NP_000569.3:p.Gly249=