Canonical Allele Identifier: CA2392214971

Gene: SLC19A1

Linked Data

• dbSNP Id: rs2078412578

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45546097C>G , CM000683.2:g.45546097C>G	GRCh38
NC_000021.8:g.46966011C>G , CM000683.1:g.46966011C>G	GRCh37
NC_000021.7:g.45790439C>G	NCBI36
NG_028278.1:g.1375G>C
NG_028278.2:g.22047G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650808.1:c.-49-8089G>C	ENSP00000498221.1:n.-49-8089G>C
XM_011529697.1:c.-125-1472G>C	XP_011527999.1:n.-125-1472G>C
XM_011529700.1:c.-49-8089G>C	XP_011528002.1:n.-49-8089G>C
XM_011529705.1:c.-137-1460G>C	XP_011528007.1:n.-137-1460G>C
XM_011529707.1:c.-137-1460G>C	XP_011528009.1:n.-137-1460G>C
XM_011529709.1:c.-407-8089G>C	XP_011528011.1:n.-407-8089G>C
XM_011529710.1:c.-165-13949G>C	XP_011528012.1:n.-165-13949G>C
NM_001352511.1:c.-49-8089G>C	NP_001339440.1:n.-49-8089G>C
XM_011529700.2:c.-49-8089G>C	XP_011528002.1:n.-49-8089G>C
XM_011529709.2:c.-407-8089G>C	XP_011528011.1:n.-407-8089G>C
NM_001352511.2:c.-49-8089G>C	NP_001339440.1:n.-49-8089G>C
NM_001352511.3:c.-49-8089G>C	NP_001339440.1:n.-49-8089G>C