Canonical Allele Identifier: CA1022844354

Gene: SLC19A1

Linked Data

• dbSNP Id: rs2078412821
• gnomAD v3: 21-45546116-A-G
• gnomAD v4: 21-45546116-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45546116A>G , CM000683.2:g.45546116A>G	GRCh38
NC_000021.8:g.46966030A>G , CM000683.1:g.46966030A>G	GRCh37
NC_000021.7:g.45790458A>G	NCBI36
NG_028278.1:g.1356T>C
NG_028278.2:g.22028T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650808.1:c.-49-8108T>C	ENSP00000498221.1:n.-49-8108T>C
XM_011529697.1:c.-125-1491T>C	XP_011527999.1:n.-125-1491T>C
XM_011529700.1:c.-49-8108T>C	XP_011528002.1:n.-49-8108T>C
XM_011529705.1:c.-137-1479T>C	XP_011528007.1:n.-137-1479T>C
XM_011529707.1:c.-137-1479T>C	XP_011528009.1:n.-137-1479T>C
XM_011529709.1:c.-407-8108T>C	XP_011528011.1:n.-407-8108T>C
XM_011529710.1:c.-165-13968T>C	XP_011528012.1:n.-165-13968T>C
NM_001352511.1:c.-49-8108T>C	NP_001339440.1:n.-49-8108T>C
XM_011529700.2:c.-49-8108T>C	XP_011528002.1:n.-49-8108T>C
XM_011529709.2:c.-407-8108T>C	XP_011528011.1:n.-407-8108T>C
NM_001352511.2:c.-49-8108T>C	NP_001339440.1:n.-49-8108T>C
NM_001352511.3:c.-49-8108T>C	NP_001339440.1:n.-49-8108T>C