Canonical Allele Identifier: CA360808636

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131728186T>G (hg19) ; chr5:g.132392494T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392494T>G , CM000667.2:g.132392494T>G	GRCh38
NC_000005.9:g.131728186T>G , CM000667.1:g.131728186T>G	GRCh37
NC_000005.8:g.131756085T>G	NCBI36
NG_008982.1:g.27786T>G
NG_008982.2:g.27791T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.1170T>G	ENSP00000388838.2:p.Phe390Leu
ENST00000435065.7:c.1401T>G	ENSP00000402760.2:p.Phe467Leu
ENST00000448810.6:c.*181T>G	ENSP00000401860.2:n.*181T>G
ENST00000685543.1:n.1470T>G
ENST00000686757.1:c.*493T>G	ENSP00000510721.1:n.*493T>G
ENST00000687740.1:n.4014T>G
ENST00000688151.1:n.2639T>G
ENST00000689271.1:c.1176T>G	ENSP00000510797.1:p.Phe392Leu
ENST00000690900.1:c.*493T>G	ENSP00000510703.1:n.*493T>G
ENST00000692212.1:n.4469T>G
ENST00000692355.1:c.582T>G
ENST00000692413.1:c.1311T>G	ENSP00000509374.1:p.Phe437Leu
ENST00000692825.1:c.1397T>G	ENSP00000509447.1:n.1397T>G
ENST00000693308.1:c.1377T>G	ENSP00000509770.1:p.Phe459Leu
ENST00000693763.1:n.2489T>G
ENST00000245407.8:c.1329T>G MANE Select	ENSP00000245407.3:p.Phe443Leu
ENST00000245407.7:c.1329T>G	ENSP00000245407.3:p.Phe443Leu
ENST00000435065.6:c.1401T>G	ENSP00000402760.2:p.Phe467Leu
ENST00000447841.5:c.173T>G
ENST00000448810.5:c.591T>G
ENST00000461013.5:n.8751T>G
ENST00000475308.1:n.2007T>G
ENST00000479605.5:n.432T>G
NM_001308122.1:c.1401T>G	NP_001295051.1:p.Phe467Leu
NM_003060.3:c.1329T>G	NP_003051.1:p.Phe443Leu
XM_011543590.1:c.711T>G	XP_011541892.1:p.Phe237Leu
XR_948290.1:n.1455T>G
XM_011543590.2:c.711T>G	XP_011541892.1:p.Phe237Leu
XM_017009778.2:c.801T>G	XP_016865267.1:p.Phe267Leu
XR_001742215.1:n.1584T>G
XR_001742216.1:n.1603T>G
XR_427718.2:n.1689T>G
XR_948290.2:n.1455T>G
XR_948291.2:n.1683T>G
NM_003060.4:c.1329T>G MANE Select	NP_003051.1:p.Phe443Leu
NM_001308122.2:c.1401T>G	NP_001295051.1:p.Phe467Leu