Canonical Allele Identifier: CA14865011
Gene: SLC19A1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1051298

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45514912G>A , CM000683.2:g.45514912G>A GRCh38
NC_000021.7:g.45759254G>A NCBI36
NC_000021.8:g.46934826G>A , CM000683.1:g.46934826G>A GRCh37
NG_011903.1:g.114721G>A
NG_028278.1:g.32560C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000311124.8:c.*746C>T ENSP00000308895.4:p.=
ENST00000380010.8:c.*64C>T ENSP00000369347.4:p.=
ENST00000417954.5:n.497+10905C>T
ENST00000460174.1:n.370C>T
ENST00000468508.1:n.222C>T
ENST00000567670.5:c.1293+10905C>T ENSP00000457278.1:p.=
NM_001205206.1:c.*64C>T VV NP_001192135.1:p.=
NM_001205207.1:c.*746C>T VV NP_001192136.1:p.=
NM_194255.2:c.*746C>T VV NP_919231.1:p.=
XM_005261164.2:c.*746C>T XP_005261221.1:p.=
XM_011529696.1:c.*746C>T XP_011527998.1:p.=
XM_011529697.1:c.*746C>T XP_011527999.1:p.=
XM_011529698.1:c.*746C>T XP_011528000.1:p.=
XM_011529699.1:c.*746C>T XP_011528001.1:p.=
XM_011529700.1:c.*746C>T XP_011528002.1:p.=
XM_011529701.1:c.*746C>T XP_011528003.1:p.=
XM_011529702.1:c.*746C>T XP_011528004.1:p.=
XM_011529703.1:c.*746C>T XP_011528005.1:p.=
XM_011529704.1:c.*746C>T XP_011528006.1:p.=
XM_011529705.1:c.*64C>T XP_011528007.1:p.=
XM_011529706.1:c.*746C>T XP_011528008.1:p.=
XM_011529707.1:c.1584+10905C>T XP_011528009.1:p.=
XM_011529708.1:c.*746C>T XP_011528010.1:p.=
XM_011529709.1:c.*746C>T XP_011528011.1:p.=
XM_011529710.1:c.*746C>T XP_011528012.1:p.=