Canonical Allele Identifier: CA2392214989
Gene: SLC19A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45546132G= , CM000683.2:g.45546132G= GRCh38
NC_000021.8:g.46966046G= , CM000683.1:g.46966046G= GRCh37
NC_000021.7:g.45790474G= NCBI36
NG_028278.1:g.1340C=
NG_028278.2:g.22012C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650808.1:c.-49-8124C= ENSP00000498221.1:n.-49-8124C=
XM_011529697.1:c.-125-1507C= XP_011527999.1:n.-125-1507C=
XM_011529700.1:c.-49-8124C= XP_011528002.1:n.-49-8124C=
XM_011529705.1:c.-137-1495C= XP_011528007.1:n.-137-1495C=
XM_011529707.1:c.-137-1495C= XP_011528009.1:n.-137-1495C=
XM_011529709.1:c.-407-8124C= XP_011528011.1:n.-407-8124C=
XM_011529710.1:c.-165-13984C= XP_011528012.1:n.-165-13984C=
NM_001352511.1:c.-49-8124C= NP_001339440.1:n.-49-8124C=
XM_011529700.2:c.-49-8124C= XP_011528002.1:n.-49-8124C=
XM_011529709.2:c.-407-8124C= XP_011528011.1:n.-407-8124C=
NM_001352511.2:c.-49-8124C= NP_001339440.1:n.-49-8124C=
NM_001352511.3:c.-49-8124C= NP_001339440.1:n.-49-8124C=