Canonical Allele Identifier: CA10068736

Gene: SLC19A1

Linked Data

• ClinVar Variation Id: 2419046
• ClinVar RCV Id: RCV003112290
• dbSNP Id: rs755610987
• ExAC: 21:46957709 G / A
• gnomAD v2: 21-46957709-G-A
• gnomAD v3: 21-45537795-G-A
• gnomAD v4: 21-45537795-G-A
• MyVariant Identifiers: chr21:g.46957709G>A (hg19) ; chr21:g.45537795G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45537795G>A , CM000683.2:g.45537795G>A	GRCh38
NC_000021.8:g.46957709G>A , CM000683.1:g.46957709G>A	GRCh37
NC_000021.7:g.45782137G>A	NCBI36
NG_028278.1:g.9677C>T
NG_028278.2:g.30349C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311124.9:c.165C>T MANE Select	ENSP00000308895.4:p.Pro55=
ENST00000650808.1:c.165C>T	ENSP00000498221.1:p.Pro55=
ENST00000311124.8:c.165C>T	ENSP00000308895.4:p.Pro55=
ENST00000380010.8:c.165C>T	ENSP00000369347.4:p.Pro55=
ENST00000427839.5:c.165C>T	ENSP00000401850.1:p.Pro55=
ENST00000443742.1:c.165C>T	ENSP00000411345.1:p.Pro55=
ENST00000486303.1:n.139C>T
ENST00000528477.1:c.165C>T	ENSP00000435780.1:p.Pro55=
ENST00000567670.5:c.165C>T	ENSP00000457278.1:p.Pro55=
NM_001205206.1:c.165C>T	NP_001192135.1:p.Pro55=
NM_194255.2:c.165C>T	NP_919231.1:p.Pro55=
XM_005261164.2:c.-194C>T	XP_005261221.1:n.-194C>T
XM_011529696.1:c.456C>T	XP_011527998.1:p.Pro152=
XM_011529697.1:c.456C>T	XP_011527999.1:p.Pro152=
XM_011529698.1:c.231C>T	XP_011528000.1:p.Pro77=
XM_011529700.1:c.165C>T	XP_011528002.1:p.Pro55=
XM_011529701.1:c.165C>T	XP_011528003.1:p.Pro55=
XM_011529702.1:c.165C>T	XP_011528004.1:p.Pro55=
XM_011529703.1:c.165C>T	XP_011528005.1:p.Pro55=
XM_011529704.1:c.165C>T	XP_011528006.1:p.Pro55=
XM_011529705.1:c.456C>T	XP_011528007.1:p.Pro152=
XM_011529707.1:c.456C>T	XP_011528009.1:p.Pro152=
XM_011529708.1:c.165C>T	XP_011528010.1:p.Pro55=
XM_011529709.1:c.-194C>T	XP_011528011.1:n.-194C>T
XM_011529710.1:c.-165-5647C>T	XP_011528012.1:n.-165-5647C>T
NM_001205206.2:c.165C>T	NP_001192135.1:p.Pro55=
NM_001352510.1:c.-194C>T	NP_001339439.1:n.-194C>T
NM_001352511.1:c.165C>T	NP_001339440.1:p.Pro55=
NM_001352512.1:c.165C>T	NP_001339441.1:p.Pro55=
NM_194255.3:c.165C>T	NP_919231.1:p.Pro55=
XM_011529696.2:c.456C>T	XP_011527998.1:p.Pro152=
XM_011529698.2:c.231C>T	XP_011528000.1:p.Pro77=
XM_011529700.2:c.165C>T	XP_011528002.1:p.Pro55=
XM_011529701.2:c.165C>T	XP_011528003.1:p.Pro55=
XM_011529702.2:c.165C>T	XP_011528004.1:p.Pro55=
XM_011529703.2:c.165C>T	XP_011528005.1:p.Pro55=
XM_011529709.2:c.-194C>T	XP_011528011.1:n.-194C>T
XM_017028443.1:c.369C>T	XP_016883932.1:p.Pro123=
XM_017028444.1:c.456C>T	XP_016883933.1:p.Pro152=
XM_017028445.2:c.456C>T	XP_016883934.1:p.Pro152=
NM_194255.4:c.165C>T MANE Select	NP_919231.1:p.Pro55=
NM_001205206.3:c.165C>T	NP_001192135.1:p.Pro55=
NM_001352510.2:c.-194C>T	NP_001339439.1:n.-194C>T
NM_001352511.2:c.165C>T	NP_001339440.1:p.Pro55=
NM_001352512.2:c.165C>T	NP_001339441.1:p.Pro55=
NM_001205206.4:c.165C>T	NP_001192135.1:p.Pro55=
NM_001352511.3:c.165C>T	NP_001339440.1:p.Pro55=