Canonical Allele Identifier: CA2392215030
Gene: SLC19A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45546214G= , CM000683.2:g.45546214G= GRCh38
NC_000021.8:g.46966128G= , CM000683.1:g.46966128G= GRCh37
NC_000021.7:g.45790556G= NCBI36
NG_028278.1:g.1258C=
NG_028278.2:g.21930C=

Transcript Alleles

HGVS Amino-acid change
ENST00000650808.1:c.-49-8206C= ENSP00000498221.1:n.-49-8206C=
XM_011529697.1:c.-125-1589C= XP_011527999.1:n.-125-1589C=
XM_011529700.1:c.-49-8206C= XP_011528002.1:n.-49-8206C=
XM_011529705.1:c.-137-1577C= XP_011528007.1:n.-137-1577C=
XM_011529707.1:c.-137-1577C= XP_011528009.1:n.-137-1577C=
XM_011529709.1:c.-407-8206C= XP_011528011.1:n.-407-8206C=
XM_011529710.1:c.-165-14066C= XP_011528012.1:n.-165-14066C=
NM_001352511.1:c.-49-8206C= NP_001339440.1:n.-49-8206C=
XM_011529700.2:c.-49-8206C= XP_011528002.1:n.-49-8206C=
XM_011529709.2:c.-407-8206C= XP_011528011.1:n.-407-8206C=
NM_001352511.2:c.-49-8206C= NP_001339440.1:n.-49-8206C=
NM_001352511.3:c.-49-8206C= NP_001339440.1:n.-49-8206C=