Canonical Allele Identifier: CA321949929

Gene: SLC19A1

Linked Data

• dbSNP Id: rs181683890
• gnomAD v2: 21-46964284-G-A
• gnomAD v3: 21-45544370-G-A
• gnomAD v4: 21-45544370-G-A
• MyVariant Identifiers: chr21:g.46964284G>A (hg19) ; chr21:g.45544370G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45544370G>A , CM000683.2:g.45544370G>A	GRCh38
NC_000021.8:g.46964284G>A , CM000683.1:g.46964284G>A	GRCh37
NC_000021.7:g.45788712G>A	NCBI36
NG_028278.1:g.3102C>T
NG_028278.2:g.23774C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650808.1:c.-49-6362C>T	ENSP00000498221.1:n.-49-6362C>T
ENST00000443742.1:c.-283C>T	ENSP00000411345.1:n.-283C>T
ENST00000528477.1:c.-366C>T	ENSP00000435780.1:n.-366C>T
ENST00000567670.5:c.-283C>T	ENSP00000457278.1:n.-283C>T
XM_011529696.1:c.33-24C>T	XP_011527998.1:n.33-24C>T
XM_011529697.1:c.33-24C>T	XP_011527999.1:n.33-24C>T
XM_011529700.1:c.-49-6362C>T	XP_011528002.1:n.-49-6362C>T
XM_011529701.1:c.-366C>T	XP_011528003.1:n.-366C>T
XM_011529705.1:c.33-24C>T	XP_011528007.1:n.33-24C>T
XM_011529707.1:c.33-24C>T	XP_011528009.1:n.33-24C>T
XM_011529708.1:c.-254-29C>T	XP_011528010.1:n.-254-29C>T
XM_011529709.1:c.-407-6362C>T	XP_011528011.1:n.-407-6362C>T
XM_011529710.1:c.-165-12222C>T	XP_011528012.1:n.-165-12222C>T
NM_001352511.1:c.-49-6362C>T	NP_001339440.1:n.-49-6362C>T
XM_011529696.2:c.33-24C>T	XP_011527998.1:n.33-24C>T
XM_011529700.2:c.-49-6362C>T	XP_011528002.1:n.-49-6362C>T
XM_011529701.2:c.-366C>T	XP_011528003.1:n.-366C>T
XM_011529709.2:c.-407-6362C>T	XP_011528011.1:n.-407-6362C>T
XM_017028444.1:c.33-24C>T	XP_016883933.1:n.33-24C>T
XM_017028445.2:c.33-24C>T	XP_016883934.1:n.33-24C>T
NM_001352511.2:c.-49-6362C>T	NP_001339440.1:n.-49-6362C>T
NM_001352511.3:c.-49-6362C>T	NP_001339440.1:n.-49-6362C>T