Canonical Allele Identifier: CA14887949

Gene: SLC19A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45528653G>A , CM000683.2:g.45528653G>A	GRCh38
NC_000021.8:g.46948567G>A , CM000683.1:g.46948567G>A	GRCh37
NC_000021.7:g.45772995G>A	NCBI36
NG_028278.1:g.18819C>T
NG_028278.2:g.39491C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311124.9:c.1151+2117C>T MANE Select	ENSP00000308895.4:n.1151+2117C>T
ENST00000650808.1:c.1151+2117C>T	ENSP00000498221.1:n.1151+2117C>T
ENST00000311124.8:c.1151+2117C>T	ENSP00000308895.4:n.1151+2117C>T
ENST00000380010.8:c.1151+2117C>T	ENSP00000369347.4:n.1151+2117C>T
ENST00000417954.5:c.355+2117C>T
ENST00000485649.3:c.1031+2117C>T	ENSP00000441772.1:n.1031+2117C>T
ENST00000567670.5:c.1151+2117C>T	ENSP00000457278.1:n.1151+2117C>T
NM_001205206.1:c.1151+2117C>T	NP_001192135.1:n.1151+2117C>T
NM_001205207.1:c.1031+2117C>T	NP_001192136.1:n.1031+2117C>T
NM_194255.2:c.1151+2117C>T	NP_919231.1:n.1151+2117C>T
XM_005261164.2:c.797+2117C>T	XP_005261221.1:n.797+2117C>T
XM_011529696.1:c.1442+2117C>T	XP_011527998.1:n.1442+2117C>T
XM_011529697.1:c.1442+2117C>T	XP_011527999.1:n.1442+2117C>T
XM_011529698.1:c.1217+2117C>T	XP_011528000.1:n.1217+2117C>T
XM_011529699.1:c.1178+2117C>T	XP_011528001.1:n.1178+2117C>T
XM_011529700.1:c.1151+2117C>T	XP_011528002.1:n.1151+2117C>T
XM_011529701.1:c.1151+2117C>T	XP_011528003.1:n.1151+2117C>T
XM_011529702.1:c.1151+2117C>T	XP_011528004.1:n.1151+2117C>T
XM_011529703.1:c.1151+2117C>T	XP_011528005.1:n.1151+2117C>T
XM_011529704.1:c.1151+2117C>T	XP_011528006.1:n.1151+2117C>T
XM_011529705.1:c.1442+2117C>T	XP_011528007.1:n.1442+2117C>T
XM_011529706.1:c.1013+2117C>T	XP_011528008.1:n.1013+2117C>T
XM_011529707.1:c.1442+2117C>T	XP_011528009.1:n.1442+2117C>T
XM_011529708.1:c.1151+2117C>T	XP_011528010.1:n.1151+2117C>T
XM_011529709.1:c.797+2117C>T	XP_011528011.1:n.797+2117C>T
XM_011529710.1:c.797+2117C>T	XP_011528012.1:n.797+2117C>T
NM_001205206.2:c.1151+2117C>T	NP_001192135.1:n.1151+2117C>T
NM_001205207.2:c.1031+2117C>T	NP_001192136.1:n.1031+2117C>T
NM_001352510.1:c.797+2117C>T	NP_001339439.1:n.797+2117C>T
NM_001352511.1:c.1151+2117C>T	NP_001339440.1:n.1151+2117C>T
NM_001352512.1:c.1151+2117C>T	NP_001339441.1:n.1151+2117C>T
NM_194255.3:c.1151+2117C>T	NP_919231.1:n.1151+2117C>T
XM_011529696.2:c.1442+2117C>T	XP_011527998.1:n.1442+2117C>T
XM_011529698.2:c.1217+2117C>T	XP_011528000.1:n.1217+2117C>T
XM_011529700.2:c.1151+2117C>T	XP_011528002.1:n.1151+2117C>T
XM_011529701.2:c.1151+2117C>T	XP_011528003.1:n.1151+2117C>T
XM_011529702.2:c.1151+2117C>T	XP_011528004.1:n.1151+2117C>T
XM_011529703.2:c.1151+2117C>T	XP_011528005.1:n.1151+2117C>T
XM_011529706.3:c.1013+2117C>T	XP_011528008.1:n.1013+2117C>T
XM_011529709.2:c.797+2117C>T	XP_011528011.1:n.797+2117C>T
XM_017028443.1:c.1355+2117C>T	XP_016883932.1:n.1355+2117C>T
XM_017028444.1:c.1442+2117C>T	XP_016883933.1:n.1442+2117C>T
XM_017028445.2:c.1442+2117C>T	XP_016883934.1:n.1442+2117C>T
NM_194255.4:c.1151+2117C>T MANE Select	NP_919231.1:n.1151+2117C>T
NM_001205206.3:c.1151+2117C>T	NP_001192135.1:n.1151+2117C>T
NM_001205207.3:c.1031+2117C>T	NP_001192136.1:n.1031+2117C>T
NM_001352510.2:c.797+2117C>T	NP_001339439.1:n.797+2117C>T
NM_001352511.2:c.1151+2117C>T	NP_001339440.1:n.1151+2117C>T
NM_001352512.2:c.1151+2117C>T	NP_001339441.1:n.1151+2117C>T
NM_001205206.4:c.1151+2117C>T	NP_001192135.1:n.1151+2117C>T
NM_001352511.3:c.1151+2117C>T	NP_001339440.1:n.1151+2117C>T