Canonical Allele Identifier: CA14865015

Gene: SLC19A1

Linked Data

• dbSNP Id: rs3788189
• gnomAD v2: 21-46936583-T-G
• gnomAD v3: 21-45516669-T-G
• gnomAD v4: 21-45516669-T-G
• MyVariant Identifiers: chr21:g.46936583T>G (hg19) ; chr21:g.45516669T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45516669T>G , CM000683.2:g.45516669T>G	GRCh38
NC_000021.8:g.46936583T>G , CM000683.1:g.46936583T>G	GRCh37
NC_000021.7:g.45761011T>G	NCBI36
NG_028278.1:g.30803A>C
NG_028278.2:g.51475A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000311124.9:c.1294-529A>C MANE Select	ENSP00000308895.4:n.1294-529A>C
ENST00000650808.1:c.1294-1517A>C	ENSP00000498221.1:n.1294-1517A>C
ENST00000311124.8:c.1294-529A>C	ENSP00000308895.4:n.1294-529A>C
ENST00000380010.8:c.1294-1517A>C	ENSP00000369347.4:n.1294-1517A>C
ENST00000417954.5:c.497+9148A>C
ENST00000485649.3:c.1174-529A>C	ENSP00000441772.1:n.1174-529A>C
ENST00000567670.5:c.1293+9148A>C	ENSP00000457278.1:n.1293+9148A>C
NM_001205206.1:c.1294-1517A>C	NP_001192135.1:n.1294-1517A>C
NM_001205207.1:c.1174-529A>C	NP_001192136.1:n.1174-529A>C
NM_194255.2:c.1294-529A>C	NP_919231.1:n.1294-529A>C
XM_005261164.2:c.940-529A>C	XP_005261221.1:n.940-529A>C
XM_011529696.1:c.1585-529A>C	XP_011527998.1:n.1585-529A>C
XM_011529697.1:c.1585-529A>C	XP_011527999.1:n.1585-529A>C
XM_011529698.1:c.1360-529A>C	XP_011528000.1:n.1360-529A>C
XM_011529699.1:c.1321-529A>C	XP_011528001.1:n.1321-529A>C
XM_011529700.1:c.1294-529A>C	XP_011528002.1:n.1294-529A>C
XM_011529701.1:c.1294-529A>C	XP_011528003.1:n.1294-529A>C
XM_011529702.1:c.1294-529A>C	XP_011528004.1:n.1294-529A>C
XM_011529703.1:c.1294-529A>C	XP_011528005.1:n.1294-529A>C
XM_011529704.1:c.1294-529A>C	XP_011528006.1:n.1294-529A>C
XM_011529705.1:c.1585-1517A>C	XP_011528007.1:n.1585-1517A>C
XM_011529706.1:c.1156-529A>C	XP_011528008.1:n.1156-529A>C
XM_011529707.1:c.1584+9148A>C	XP_011528009.1:n.1584+9148A>C
XM_011529708.1:c.1294-529A>C	XP_011528010.1:n.1294-529A>C
XM_011529709.1:c.940-529A>C	XP_011528011.1:n.940-529A>C
XM_011529710.1:c.940-529A>C	XP_011528012.1:n.940-529A>C
NM_001205206.2:c.1294-1517A>C	NP_001192135.1:n.1294-1517A>C
NM_001205207.2:c.1174-529A>C	NP_001192136.1:n.1174-529A>C
NM_001352510.1:c.940-529A>C	NP_001339439.1:n.940-529A>C
NM_001352511.1:c.1294-1517A>C	NP_001339440.1:n.1294-1517A>C
NM_001352512.1:c.1294-529A>C	NP_001339441.1:n.1294-529A>C
NM_194255.3:c.1294-529A>C	NP_919231.1:n.1294-529A>C
XM_011529696.2:c.1585-529A>C	XP_011527998.1:n.1585-529A>C
XM_011529698.2:c.1360-529A>C	XP_011528000.1:n.1360-529A>C
XM_011529700.2:c.1294-529A>C	XP_011528002.1:n.1294-529A>C
XM_011529701.2:c.1294-529A>C	XP_011528003.1:n.1294-529A>C
XM_011529702.2:c.1294-529A>C	XP_011528004.1:n.1294-529A>C
XM_011529703.2:c.1294-529A>C	XP_011528005.1:n.1294-529A>C
XM_011529706.3:c.1156-529A>C	XP_011528008.1:n.1156-529A>C
XM_011529709.2:c.940-529A>C	XP_011528011.1:n.940-529A>C
XM_017028443.1:c.1498-529A>C	XP_016883932.1:n.1498-529A>C
XM_017028444.1:c.1585-1517A>C	XP_016883933.1:n.1585-1517A>C
XM_017028445.2:c.1584+9148A>C	XP_016883934.1:n.1584+9148A>C
NM_194255.4:c.1294-529A>C MANE Select	NP_919231.1:n.1294-529A>C
NM_001205206.3:c.1294-1517A>C	NP_001192135.1:n.1294-1517A>C
NM_001205207.3:c.1174-529A>C	NP_001192136.1:n.1174-529A>C
NM_001352510.2:c.940-529A>C	NP_001339439.1:n.940-529A>C
NM_001352511.2:c.1294-1517A>C	NP_001339440.1:n.1294-1517A>C
NM_001352512.2:c.1294-529A>C	NP_001339441.1:n.1294-529A>C
NM_001205206.4:c.1294-1517A>C	NP_001192135.1:n.1294-1517A>C
NM_001352511.3:c.1294-1517A>C	NP_001339440.1:n.1294-1517A>C