Canonical Allele Identifier: CA360807808

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 460394
• ClinVar RCV Id: RCV000545444 ; RCV002226468
• dbSNP Id: rs1224278173
• gnomAD v2: 5-131726567-T-G
• gnomAD v3: 5-132390875-T-G
• gnomAD v4: 5-132390875-T-G
• MyVariant Identifiers: chr5:g.131726567T>G (hg19) ; chr5:g.132390875T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390875T>G , CM000667.2:g.132390875T>G	GRCh38
NC_000005.9:g.131726567T>G , CM000667.1:g.131726567T>G	GRCh37
NC_000005.8:g.131754466T>G	NCBI36
NG_008982.1:g.26167T>G
NG_008982.2:g.26172T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1079T>G	ENSP00000388838.2:p.Val360Gly
ENST00000435065.7:c.1310T>G	ENSP00000402760.2:p.Val437Gly
ENST00000448810.6:c.*90T>G	ENSP00000401860.2:n.*90T>G
ENST00000685543.1:n.1379T>G
ENST00000686757.1:c.*402T>G	ENSP00000510721.1:n.*402T>G
ENST00000687740.1:n.3923T>G
ENST00000688151.1:n.2548T>G
ENST00000689271.1:c.1085T>G	ENSP00000510797.1:p.Val362Gly
ENST00000690900.1:c.*402T>G	ENSP00000510703.1:n.*402T>G
ENST00000692212.1:n.2850T>G
ENST00000692355.1:c.491T>G
ENST00000692413.1:c.1220T>G	ENSP00000509374.1:p.Val407Gly
ENST00000692825.1:c.1306T>G	ENSP00000509447.1:n.1306T>G
ENST00000693308.1:c.1286T>G	ENSP00000509770.1:p.Val429Gly
ENST00000693763.1:n.2398T>G
ENST00000245407.8:c.1238T>G MANE Select	ENSP00000245407.3:p.Val413Gly
ENST00000245407.7:c.1238T>G	ENSP00000245407.3:p.Val413Gly
ENST00000435065.6:c.1310T>G	ENSP00000402760.2:p.Val437Gly
ENST00000447841.5:c.112-1558T>G
ENST00000448810.5:c.500T>G
ENST00000461013.5:n.8660T>G
ENST00000475308.1:n.1916T>G
ENST00000479605.5:n.341T>G
NM_001308122.1:c.1310T>G	NP_001295051.1:p.Val437Gly
NM_003060.3:c.1238T>G	NP_003051.1:p.Val413Gly
XM_011543590.1:c.620T>G	XP_011541892.1:p.Val207Gly
XR_427718.1:n.1598T>G
XR_948290.1:n.1394-1558T>G
XR_948291.1:n.1592T>G
XM_011543590.2:c.620T>G	XP_011541892.1:p.Val207Gly
XM_017009778.2:c.710T>G	XP_016865267.1:p.Val237Gly
XR_001742215.1:n.1493T>G
XR_001742216.1:n.1512T>G
XR_427718.2:n.1598T>G
XR_948290.2:n.1394-1558T>G
XR_948291.2:n.1592T>G
NM_003060.4:c.1238T>G MANE Select	NP_003051.1:p.Val413Gly
NM_001308122.2:c.1310T>G	NP_001295051.1:p.Val437Gly