Canonical Allele Identifier: CA2392214913
Gene: SLC19A1 HGNC NCBI

Linked Data

dbSNP Id: rs974099272

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45545989C>T , CM000683.2:g.45545989C>T GRCh38
NC_000021.8:g.46965903C>T , CM000683.1:g.46965903C>T GRCh37
NC_000021.7:g.45790331C>T NCBI36
NG_028278.1:g.1483G>A
NG_028278.2:g.22155G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650808.1:c.-49-7981G>A ENSP00000498221.1:n.-49-7981G>A
XM_011529697.1:c.-125-1364G>A XP_011527999.1:n.-125-1364G>A
XM_011529700.1:c.-49-7981G>A XP_011528002.1:n.-49-7981G>A
XM_011529705.1:c.-137-1352G>A XP_011528007.1:n.-137-1352G>A
XM_011529707.1:c.-137-1352G>A XP_011528009.1:n.-137-1352G>A
XM_011529709.1:c.-407-7981G>A XP_011528011.1:n.-407-7981G>A
XM_011529710.1:c.-165-13841G>A XP_011528012.1:n.-165-13841G>A
NM_001352511.1:c.-49-7981G>A NP_001339440.1:n.-49-7981G>A
XM_011529700.2:c.-49-7981G>A XP_011528002.1:n.-49-7981G>A
XM_011529709.2:c.-407-7981G>A XP_011528011.1:n.-407-7981G>A
NM_001352511.2:c.-49-7981G>A NP_001339440.1:n.-49-7981G>A
NM_001352511.3:c.-49-7981G>A NP_001339440.1:n.-49-7981G>A