Canonical Allele Identifier: CA342666

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 25407
• ClinVar RCV Id: RCV000022361 ; RCV001552646
• dbSNP Id: rs150544263
• ExAC: 5:131724704 T / C
• gnomAD v2: 5-131724704-T-C
• gnomAD v3: 5-132389012-T-C
• gnomAD v4: 5-132389012-T-C
• MyVariant Identifiers: chr5:g.131724704T>C (hg19) ; chr5:g.132389012T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132389012T>C , CM000667.2:g.132389012T>C	GRCh38
NC_000005.9:g.131724704T>C , CM000667.1:g.131724704T>C	GRCh37
NC_000005.8:g.131752603T>C	NCBI36
NG_008982.1:g.24304T>C
NG_008982.2:g.24309T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.884T>C	ENSP00000388838.2:p.Ile295Thr
ENST00000435065.7:c.1115T>C	ENSP00000402760.2:p.Ile372Thr
ENST00000448810.6:c.1043T>C	ENSP00000401860.2:p.Ile348Thr
ENST00000685543.1:n.1184T>C
ENST00000686757.1:c.*207T>C	ENSP00000510721.1:n.*207T>C
ENST00000687740.1:n.3728T>C
ENST00000688151.1:n.2353T>C
ENST00000689271.1:c.890T>C	ENSP00000510797.1:p.Ile297Thr
ENST00000690900.1:c.*207T>C	ENSP00000510703.1:n.*207T>C
ENST00000692212.1:n.987T>C
ENST00000692355.1:c.296T>C
ENST00000692413.1:c.1025T>C	ENSP00000509374.1:p.Ile342Thr
ENST00000692825.1:c.1111T>C	ENSP00000509447.1:n.1111T>C
ENST00000693308.1:c.1091T>C	ENSP00000509770.1:p.Ile364Thr
ENST00000693763.1:n.2203T>C
ENST00000245407.8:c.1043T>C MANE Select	ENSP00000245407.3:p.Ile348Thr
ENST00000245407.7:c.1043T>C	ENSP00000245407.3:p.Ile348Thr
ENST00000435065.6:c.1115T>C	ENSP00000402760.2:p.Ile372Thr
ENST00000447841.5:c.102T>C
ENST00000448810.5:c.391T>C
ENST00000461013.5:n.8465T>C
ENST00000475308.1:n.53T>C
ENST00000479605.5:n.146T>C
NM_001308122.1:c.1115T>C	NP_001295051.1:p.Ile372Thr
NM_003060.3:c.1043T>C	NP_003051.1:p.Ile348Thr
XM_011543590.1:c.425T>C	XP_011541892.1:p.Ile142Thr
XR_427718.1:n.1403T>C
XR_948290.1:n.1384T>C
XR_948291.1:n.1397T>C
XM_011543590.2:c.425T>C	XP_011541892.1:p.Ile142Thr
XM_017009778.2:c.515T>C	XP_016865267.1:p.Ile172Thr
XR_001742215.1:n.1384T>C
XR_001742216.1:n.1403T>C
XR_427718.2:n.1403T>C
XR_948290.2:n.1384T>C
XR_948291.2:n.1397T>C
NM_003060.4:c.1043T>C MANE Select	NP_003051.1:p.Ile348Thr
NM_001308122.2:c.1115T>C	NP_001295051.1:p.Ile372Thr