Canonical Allele Identifier: CA360807393

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1480070
• ClinVar RCV Id: RCV001991178
• dbSNP Id: rs2126789583
• MyVariant Identifiers: chr5:g.131726391A>G (hg19) ; chr5:g.132390699A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390699A>G , CM000667.2:g.132390699A>G	GRCh38
NC_000005.9:g.131726391A>G , CM000667.1:g.131726391A>G	GRCh37
NC_000005.8:g.131754290A>G	NCBI36
NG_008982.1:g.25991A>G
NG_008982.2:g.25996A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.903A>G	ENSP00000388838.2:p.Ile301Met
ENST00000435065.7:c.1134A>G	ENSP00000402760.2:p.Ile378Met
ENST00000448810.6:c.1053-77A>G	ENSP00000401860.2:n.1053-77A>G
ENST00000685543.1:n.1203A>G
ENST00000686757.1:c.*226A>G	ENSP00000510721.1:n.*226A>G
ENST00000687740.1:n.3747A>G
ENST00000688151.1:n.2372A>G
ENST00000689271.1:c.909A>G	ENSP00000510797.1:p.Ile303Met
ENST00000690900.1:c.*226A>G	ENSP00000510703.1:n.*226A>G
ENST00000692212.1:n.2674A>G
ENST00000692355.1:c.315A>G
ENST00000692413.1:c.1044A>G	ENSP00000509374.1:p.Ile348Met
ENST00000692825.1:c.1130A>G	ENSP00000509447.1:n.1130A>G
ENST00000693308.1:c.1110A>G	ENSP00000509770.1:p.Ile370Met
ENST00000693763.1:n.2222A>G
ENST00000245407.8:c.1062A>G MANE Select	ENSP00000245407.3:p.Ile354Met
ENST00000245407.7:c.1062A>G	ENSP00000245407.3:p.Ile354Met
ENST00000435065.6:c.1134A>G	ENSP00000402760.2:p.Ile378Met
ENST00000447841.5:c.111+1678A>G
ENST00000448810.5:c.401-77A>G
ENST00000461013.5:n.8484A>G
ENST00000475308.1:n.1740A>G
ENST00000479605.5:n.165A>G
NM_001308122.1:c.1134A>G	NP_001295051.1:p.Ile378Met
NM_003060.3:c.1062A>G	NP_003051.1:p.Ile354Met
XM_011543590.1:c.444A>G	XP_011541892.1:p.Ile148Met
XR_427718.1:n.1422A>G
XR_948290.1:n.1393+1678A>G
XR_948291.1:n.1416A>G
XM_011543590.2:c.444A>G	XP_011541892.1:p.Ile148Met
XM_017009778.2:c.534A>G	XP_016865267.1:p.Ile178Met
XR_001742215.1:n.1394-77A>G
XR_001742216.1:n.1413-77A>G
XR_427718.2:n.1422A>G
XR_948290.2:n.1393+1678A>G
XR_948291.2:n.1416A>G
NM_003060.4:c.1062A>G MANE Select	NP_003051.1:p.Ile354Met
NM_001308122.2:c.1134A>G	NP_001295051.1:p.Ile378Met