Canonical Allele Identifier: CA2392215000

Gene: SLC19A1

Linked Data

• dbSNP Id: rs1602934441

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45546148T>G , CM000683.2:g.45546148T>G	GRCh38
NC_000021.8:g.46966062T>G , CM000683.1:g.46966062T>G	GRCh37
NC_000021.7:g.45790490T>G	NCBI36
NG_028278.1:g.1324A>C
NG_028278.2:g.21996A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650808.1:c.-49-8140A>C	ENSP00000498221.1:n.-49-8140A>C
XM_011529697.1:c.-125-1523A>C	XP_011527999.1:n.-125-1523A>C
XM_011529700.1:c.-49-8140A>C	XP_011528002.1:n.-49-8140A>C
XM_011529705.1:c.-137-1511A>C	XP_011528007.1:n.-137-1511A>C
XM_011529707.1:c.-137-1511A>C	XP_011528009.1:n.-137-1511A>C
XM_011529709.1:c.-407-8140A>C	XP_011528011.1:n.-407-8140A>C
XM_011529710.1:c.-165-14000A>C	XP_011528012.1:n.-165-14000A>C
NM_001352511.1:c.-49-8140A>C	NP_001339440.1:n.-49-8140A>C
XM_011529700.2:c.-49-8140A>C	XP_011528002.1:n.-49-8140A>C
XM_011529709.2:c.-407-8140A>C	XP_011528011.1:n.-407-8140A>C
NM_001352511.2:c.-49-8140A>C	NP_001339440.1:n.-49-8140A>C
NM_001352511.3:c.-49-8140A>C	NP_001339440.1:n.-49-8140A>C