Canonical Allele Identifier: CA2392214125

Gene: SLC19A1

Linked Data

• dbSNP Id: rs2078391245
• gnomAD v4: 21-45544398-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45544398G>A , CM000683.2:g.45544398G>A	GRCh38
NC_000021.8:g.46964312G>A , CM000683.1:g.46964312G>A	GRCh37
NC_000021.7:g.45788740G>A	NCBI36
NG_028278.1:g.3074C>T
NG_028278.2:g.23746C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650808.1:c.-49-6390C>T	ENSP00000498221.1:n.-49-6390C>T
ENST00000443742.1:c.-311C>T	ENSP00000411345.1:n.-311C>T
ENST00000528477.1:c.-394C>T	ENSP00000435780.1:n.-394C>T
ENST00000567670.5:c.-311C>T	ENSP00000457278.1:n.-311C>T
XM_011529696.1:c.33-52C>T	XP_011527998.1:n.33-52C>T
XM_011529697.1:c.33-52C>T	XP_011527999.1:n.33-52C>T
XM_011529700.1:c.-49-6390C>T	XP_011528002.1:n.-49-6390C>T
XM_011529701.1:c.-394C>T	XP_011528003.1:n.-394C>T
XM_011529705.1:c.33-52C>T	XP_011528007.1:n.33-52C>T
XM_011529707.1:c.33-52C>T	XP_011528009.1:n.33-52C>T
XM_011529708.1:c.-254-57C>T	XP_011528010.1:n.-254-57C>T
XM_011529709.1:c.-407-6390C>T	XP_011528011.1:n.-407-6390C>T
XM_011529710.1:c.-165-12250C>T	XP_011528012.1:n.-165-12250C>T
NM_001352511.1:c.-49-6390C>T	NP_001339440.1:n.-49-6390C>T
XM_011529696.2:c.33-52C>T	XP_011527998.1:n.33-52C>T
XM_011529700.2:c.-49-6390C>T	XP_011528002.1:n.-49-6390C>T
XM_011529701.2:c.-394C>T	XP_011528003.1:n.-394C>T
XM_011529709.2:c.-407-6390C>T	XP_011528011.1:n.-407-6390C>T
XM_017028444.1:c.33-52C>T	XP_016883933.1:n.33-52C>T
XM_017028445.2:c.33-52C>T	XP_016883934.1:n.33-52C>T
NM_001352511.2:c.-49-6390C>T	NP_001339440.1:n.-49-6390C>T
NM_001352511.3:c.-49-6390C>T	NP_001339440.1:n.-49-6390C>T