Canonical Allele Identifier: CA360807390

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1723556
• ClinVar RCV Id: RCV002308830
• dbSNP Id: rs1195145988
• gnomAD v3: 5-132390698-T-C
• gnomAD v4: 5-132390698-T-C
• MyVariant Identifiers: chr5:g.131726390T>C (hg19) ; chr5:g.132390698T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390698T>C , CM000667.2:g.132390698T>C	GRCh38
NC_000005.9:g.131726390T>C , CM000667.1:g.131726390T>C	GRCh37
NC_000005.8:g.131754289T>C	NCBI36
NG_008982.1:g.25990T>C
NG_008982.2:g.25995T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.902T>C	ENSP00000388838.2:p.Ile301Thr
ENST00000435065.7:c.1133T>C	ENSP00000402760.2:p.Ile378Thr
ENST00000448810.6:c.1053-78T>C	ENSP00000401860.2:n.1053-78T>C
ENST00000685543.1:n.1202T>C
ENST00000686757.1:c.*225T>C	ENSP00000510721.1:n.*225T>C
ENST00000687740.1:n.3746T>C
ENST00000688151.1:n.2371T>C
ENST00000689271.1:c.908T>C	ENSP00000510797.1:p.Ile303Thr
ENST00000690900.1:c.*225T>C	ENSP00000510703.1:n.*225T>C
ENST00000692212.1:n.2673T>C
ENST00000692355.1:c.314T>C
ENST00000692413.1:c.1043T>C	ENSP00000509374.1:p.Ile348Thr
ENST00000692825.1:c.1129T>C	ENSP00000509447.1:n.1129T>C
ENST00000693308.1:c.1109T>C	ENSP00000509770.1:p.Ile370Thr
ENST00000693763.1:n.2221T>C
ENST00000245407.8:c.1061T>C MANE Select	ENSP00000245407.3:p.Ile354Thr
ENST00000245407.7:c.1061T>C	ENSP00000245407.3:p.Ile354Thr
ENST00000435065.6:c.1133T>C	ENSP00000402760.2:p.Ile378Thr
ENST00000447841.5:c.111+1677T>C
ENST00000448810.5:c.401-78T>C
ENST00000461013.5:n.8483T>C
ENST00000475308.1:n.1739T>C
ENST00000479605.5:n.164T>C
NM_001308122.1:c.1133T>C	NP_001295051.1:p.Ile378Thr
NM_003060.3:c.1061T>C	NP_003051.1:p.Ile354Thr
XM_011543590.1:c.443T>C	XP_011541892.1:p.Ile148Thr
XR_427718.1:n.1421T>C
XR_948290.1:n.1393+1677T>C
XR_948291.1:n.1415T>C
XM_011543590.2:c.443T>C	XP_011541892.1:p.Ile148Thr
XM_017009778.2:c.533T>C	XP_016865267.1:p.Ile178Thr
XR_001742215.1:n.1394-78T>C
XR_001742216.1:n.1413-78T>C
XR_427718.2:n.1421T>C
XR_948290.2:n.1393+1677T>C
XR_948291.2:n.1415T>C
NM_003060.4:c.1061T>C MANE Select	NP_003051.1:p.Ile354Thr
NM_001308122.2:c.1133T>C	NP_001295051.1:p.Ile378Thr