Canonical Allele Identifier: CA3404177

Gene: SLC22A5

Linked Data

• ClinVar Variation Id: 1097689
• ClinVar RCV Id: RCV001419375
• dbSNP Id: rs763224132
• ExAC: 5:131729375 C / T
• gnomAD v2: 5-131729375-C-T
• gnomAD v3: 5-132393683-C-T
• gnomAD v4: 5-132393683-C-T
• MyVariant Identifiers: chr5:g.131729375C>T (hg19) ; chr5:g.132393683C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393683C>T , CM000667.2:g.132393683C>T	GRCh38
NC_000005.9:g.131729375C>T , CM000667.1:g.131729375C>T	GRCh37
NC_000005.8:g.131757274C>T	NCBI36
NG_008982.1:g.28975C>T
NG_008982.2:g.28980C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-502C>T	ENSP00000388838.2:n.1292-502C>T
ENST00000435065.7:c.1530C>T	ENSP00000402760.2:p.Tyr510=
ENST00000448810.6:c.*310C>T	ENSP00000401860.2:n.*310C>T
ENST00000685543.1:n.1599C>T
ENST00000686757.1:c.*622C>T	ENSP00000510721.1:n.*622C>T
ENST00000686868.1:n.450C>T
ENST00000687740.1:n.4143C>T
ENST00000688151.1:n.2768C>T
ENST00000689271.1:c.1305C>T	ENSP00000510797.1:p.Tyr435=
ENST00000690900.1:c.*622C>T	ENSP00000510703.1:n.*622C>T
ENST00000692212.1:n.4598C>T
ENST00000692355.1:c.711C>T
ENST00000692413.1:c.1440C>T	ENSP00000509374.1:p.Tyr480=
ENST00000692825.1:c.1526C>T	ENSP00000509447.1:n.1526C>T
ENST00000693308.1:c.1506C>T	ENSP00000509770.1:p.Tyr502=
ENST00000693763.1:n.2618C>T
ENST00000245407.8:c.1458C>T MANE Select	ENSP00000245407.3:p.Tyr486=
ENST00000245407.7:c.1458C>T	ENSP00000245407.3:p.Tyr486=
ENST00000435065.6:c.1530C>T	ENSP00000402760.2:p.Tyr510=
ENST00000447841.5:c.302C>T
ENST00000448810.5:c.720C>T
ENST00000461013.5:n.8880C>T
ENST00000475308.1:n.2136C>T
ENST00000479605.5:n.561C>T
NM_001308122.1:c.1530C>T	NP_001295051.1:p.Tyr510=
NM_003060.3:c.1458C>T	NP_003051.1:p.Tyr486=
XM_011543590.1:c.840C>T	XP_011541892.1:p.Tyr280=
XR_948290.1:n.1584C>T
XM_011543590.2:c.840C>T	XP_011541892.1:p.Tyr280=
XM_017009778.2:c.930C>T	XP_016865267.1:p.Tyr310=
XR_001742215.1:n.1713C>T
XR_001742216.1:n.1732C>T
XR_427718.2:n.1818C>T
XR_948290.2:n.1584C>T
XR_948291.2:n.1812C>T
NM_003060.4:c.1458C>T MANE Select	NP_003051.1:p.Tyr486=
NM_001308122.2:c.1530C>T	NP_001295051.1:p.Tyr510=