Canonical Allele Identifier: CA2392215049
Gene: SLC19A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45546266G= , CM000683.2:g.45546266G= GRCh38
NC_000021.8:g.46966180G= , CM000683.1:g.46966180G= GRCh37
NC_000021.7:g.45790608G= NCBI36
NG_028278.1:g.1206C=
NG_028278.2:g.21878C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650808.1:c.-49-8258C= ENSP00000498221.1:n.-49-8258C=
XM_011529697.1:c.-125-1641C= XP_011527999.1:n.-125-1641C=
XM_011529700.1:c.-49-8258C= XP_011528002.1:n.-49-8258C=
XM_011529705.1:c.-137-1629C= XP_011528007.1:n.-137-1629C=
XM_011529707.1:c.-137-1629C= XP_011528009.1:n.-137-1629C=
XM_011529709.1:c.-407-8258C= XP_011528011.1:n.-407-8258C=
XM_011529710.1:c.-165-14118C= XP_011528012.1:n.-165-14118C=
NM_001352511.1:c.-49-8258C= NP_001339440.1:n.-49-8258C=
XM_011529700.2:c.-49-8258C= XP_011528002.1:n.-49-8258C=
XM_011529709.2:c.-407-8258C= XP_011528011.1:n.-407-8258C=
NM_001352511.2:c.-49-8258C= NP_001339440.1:n.-49-8258C=
NM_001352511.3:c.-49-8258C= NP_001339440.1:n.-49-8258C=