Canonical Allele Identifier: CA3404107

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 574461
• ClinVar RCV Id: RCV000696397 ; RCV002226484
• dbSNP Id: rs780591287
• ExAC: 5:131726584 C / G
• gnomAD v2: 5-131726584-C-G
• gnomAD v3: 5-132390892-C-G
• gnomAD v4: 5-132390892-C-G
• MyVariant Identifiers: chr5:g.131726584C>G (hg19) ; chr5:g.132390892C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390892C>G , CM000667.2:g.132390892C>G	GRCh38
NC_000005.9:g.131726584C>G , CM000667.1:g.131726584C>G	GRCh37
NC_000005.8:g.131754483C>G	NCBI36
NG_008982.1:g.26184C>G
NG_008982.2:g.26189C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1096C>G	ENSP00000388838.2:p.Leu366Val
ENST00000435065.7:c.1327C>G	ENSP00000402760.2:p.Leu443Val
ENST00000448810.6:c.*107C>G	ENSP00000401860.2:n.*107C>G
ENST00000685543.1:n.1396C>G
ENST00000686757.1:c.*419C>G	ENSP00000510721.1:n.*419C>G
ENST00000687740.1:n.3940C>G
ENST00000688151.1:n.2565C>G
ENST00000689271.1:c.1102C>G	ENSP00000510797.1:p.Leu368Val
ENST00000690900.1:c.*419C>G	ENSP00000510703.1:n.*419C>G
ENST00000692212.1:n.2867C>G
ENST00000692355.1:c.508C>G
ENST00000692413.1:c.1237C>G	ENSP00000509374.1:p.Leu413Val
ENST00000692825.1:c.1323C>G	ENSP00000509447.1:n.1323C>G
ENST00000693308.1:c.1303C>G	ENSP00000509770.1:p.Leu435Val
ENST00000693763.1:n.2415C>G
ENST00000245407.8:c.1255C>G MANE Select	ENSP00000245407.3:p.Leu419Val
ENST00000245407.7:c.1255C>G	ENSP00000245407.3:p.Leu419Val
ENST00000435065.6:c.1327C>G	ENSP00000402760.2:p.Leu443Val
ENST00000447841.5:c.112-1541C>G
ENST00000448810.5:c.517C>G
ENST00000461013.5:n.8677C>G
ENST00000475308.1:n.1933C>G
ENST00000479605.5:n.358C>G
NM_001308122.1:c.1327C>G	NP_001295051.1:p.Leu443Val
NM_003060.3:c.1255C>G	NP_003051.1:p.Leu419Val
XM_011543590.1:c.637C>G	XP_011541892.1:p.Leu213Val
XR_427718.1:n.1615C>G
XR_948290.1:n.1394-1541C>G
XR_948291.1:n.1609C>G
XM_011543590.2:c.637C>G	XP_011541892.1:p.Leu213Val
XM_017009778.2:c.727C>G	XP_016865267.1:p.Leu243Val
XR_001742215.1:n.1510C>G
XR_001742216.1:n.1529C>G
XR_427718.2:n.1615C>G
XR_948290.2:n.1394-1541C>G
XR_948291.2:n.1609C>G
NM_003060.4:c.1255C>G MANE Select	NP_003051.1:p.Leu419Val
NM_001308122.2:c.1327C>G	NP_001295051.1:p.Leu443Val