Canonical Allele Identifier: CA2654931542
Gene: SLC19A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45544372G>T , CM000683.2:g.45544372G>T GRCh38
NC_000021.8:g.46964286G>T , CM000683.1:g.46964286G>T GRCh37
NC_000021.7:g.45788714G>T NCBI36
NG_028278.1:g.3100C>A
NG_028278.2:g.23772C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650808.1:c.-49-6364C>A ENSP00000498221.1:n.-49-6364C>A
ENST00000443742.1:c.-285C>A ENSP00000411345.1:n.-285C>A
ENST00000528477.1:c.-368C>A ENSP00000435780.1:n.-368C>A
ENST00000567670.5:c.-285C>A ENSP00000457278.1:n.-285C>A
XM_011529696.1:c.33-26C>A XP_011527998.1:n.33-26C>A
XM_011529697.1:c.33-26C>A XP_011527999.1:n.33-26C>A
XM_011529700.1:c.-49-6364C>A XP_011528002.1:n.-49-6364C>A
XM_011529701.1:c.-368C>A XP_011528003.1:n.-368C>A
XM_011529705.1:c.33-26C>A XP_011528007.1:n.33-26C>A
XM_011529707.1:c.33-26C>A XP_011528009.1:n.33-26C>A
XM_011529708.1:c.-254-31C>A XP_011528010.1:n.-254-31C>A
XM_011529709.1:c.-407-6364C>A XP_011528011.1:n.-407-6364C>A
XM_011529710.1:c.-165-12224C>A XP_011528012.1:n.-165-12224C>A
NM_001352511.1:c.-49-6364C>A NP_001339440.1:n.-49-6364C>A
XM_011529696.2:c.33-26C>A XP_011527998.1:n.33-26C>A
XM_011529700.2:c.-49-6364C>A XP_011528002.1:n.-49-6364C>A
XM_011529701.2:c.-368C>A XP_011528003.1:n.-368C>A
XM_011529709.2:c.-407-6364C>A XP_011528011.1:n.-407-6364C>A
XM_017028444.1:c.33-26C>A XP_016883933.1:n.33-26C>A
XM_017028445.2:c.33-26C>A XP_016883934.1:n.33-26C>A
NM_001352511.2:c.-49-6364C>A NP_001339440.1:n.-49-6364C>A
NM_001352511.3:c.-49-6364C>A NP_001339440.1:n.-49-6364C>A