Canonical Allele Identifier: CA321946639
Gene: SLC19A1 HGNC NCBI

Linked Data

dbSNP Id: rs1131596
MyVariant Identifiers: chr21:g.45538002G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45538002G>C , CM000683.2:g.45538002G>C GRCh38
NC_000021.8:g.46957916G>C , CM000683.1:g.46957916G>C GRCh37
NC_000021.7:g.45782344G>C NCBI36
NG_028278.1:g.9470C>G
NG_028278.2:g.30142C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000311124.9:c.-43C>G MANE Select ENSP00000308895.4:p.=
ENST00000650808.1:c.-43C>G ENSP00000498221.1:p.=
ENST00000311124.8:c.-43C>G ENSP00000308895.4:p.=
ENST00000380010.8:c.-43C>G ENSP00000369347.4:p.=
ENST00000427839.5:c.-43C>G ENSP00000401850.1:p.=
ENST00000443742.1:c.-43C>G ENSP00000411345.1:p.=
ENST00000528477.1:c.-43C>G ENSP00000435780.1:p.=
ENST00000567670.5:c.-43C>G ENSP00000457278.1:p.=
NM_001205206.1:c.-43C>G NP_001192135.1:p.=
NM_194255.2:c.-43C>G NP_919231.1:p.=
XM_005261164.2:c.-401C>G XP_005261221.1:p.=
XM_011529696.1:c.249C>G XP_011527998.1:p.Ser83Arg
XM_011529697.1:c.249C>G XP_011527999.1:p.Ser83Arg
XM_011529698.1:c.24C>G XP_011528000.1:p.Ser8Arg
XM_011529700.1:c.-43C>G XP_011528002.1:p.=
XM_011529701.1:c.-43C>G XP_011528003.1:p.=
XM_011529702.1:c.-43C>G XP_011528004.1:p.=
XM_011529703.1:c.-43C>G XP_011528005.1:p.=
XM_011529704.1:c.-43C>G XP_011528006.1:p.=
XM_011529705.1:c.249C>G XP_011528007.1:p.Ser83Arg
XM_011529707.1:c.249C>G XP_011528009.1:p.Ser83Arg
XM_011529708.1:c.-43C>G XP_011528010.1:p.=
XM_011529709.1:c.-401C>G XP_011528011.1:p.=
XM_011529710.1:c.-165-5854C>G XP_011528012.1:p.=
NM_001205206.2:c.-43C>G NP_001192135.1:p.=
NM_001352510.1:c.-401C>G NP_001339439.1:p.=
NM_001352511.1:c.-43C>G NP_001339440.1:p.=
NM_001352512.1:c.-43C>G NP_001339441.1:p.=
NM_194255.3:c.-43C>G NP_919231.1:p.=
XM_011529696.2:c.249C>G XP_011527998.1:p.Ser83Arg
XM_011529698.2:c.24C>G XP_011528000.1:p.Ser8Arg
XM_011529700.2:c.-43C>G XP_011528002.1:p.=
XM_011529701.2:c.-43C>G XP_011528003.1:p.=
XM_011529702.2:c.-43C>G XP_011528004.1:p.=
XM_011529703.2:c.-43C>G XP_011528005.1:p.=
XM_011529709.2:c.-401C>G XP_011528011.1:p.=
XM_017028443.1:c.162C>G XP_016883932.1:p.Ser54Arg
XM_017028444.1:c.249C>G XP_016883933.1:p.Ser83Arg
XM_017028445.2:c.249C>G XP_016883934.1:p.Ser83Arg
NM_194255.4:c.-43C>G MANE Select NP_919231.1:p.=
NM_001205206.3:c.-43C>G NP_001192135.1:p.=
NM_001352510.2:c.-401C>G NP_001339439.1:p.=
NM_001352511.2:c.-43C>G NP_001339440.1:p.=
NM_001352512.2:c.-43C>G NP_001339441.1:p.=
NM_001205206.4:c.-43C>G NP_001192135.1:p.=
NM_001352511.3:c.-43C>G NP_001339440.1:p.=