Canonical Allele Identifier: CA360807739

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726533T>G (hg19) ; chr5:g.132390841T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390841T>G , CM000667.2:g.132390841T>G	GRCh38
NC_000005.9:g.131726533T>G , CM000667.1:g.131726533T>G	GRCh37
NC_000005.8:g.131754432T>G	NCBI36
NG_008982.1:g.26133T>G
NG_008982.2:g.26138T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1045T>G	ENSP00000388838.2:p.Ser349Ala
ENST00000435065.7:c.1276T>G	ENSP00000402760.2:p.Ser426Ala
ENST00000448810.6:c.*56T>G	ENSP00000401860.2:n.*56T>G
ENST00000685543.1:n.1345T>G
ENST00000686757.1:c.*368T>G	ENSP00000510721.1:n.*368T>G
ENST00000687740.1:n.3889T>G
ENST00000688151.1:n.2514T>G
ENST00000689271.1:c.1051T>G	ENSP00000510797.1:p.Ser351Ala
ENST00000690900.1:c.*368T>G	ENSP00000510703.1:n.*368T>G
ENST00000692212.1:n.2816T>G
ENST00000692355.1:c.457T>G
ENST00000692413.1:c.1186T>G	ENSP00000509374.1:p.Ser396Ala
ENST00000692825.1:c.1272T>G	ENSP00000509447.1:n.1272T>G
ENST00000693308.1:c.1252T>G	ENSP00000509770.1:p.Ser418Ala
ENST00000693763.1:n.2364T>G
ENST00000245407.8:c.1204T>G MANE Select	ENSP00000245407.3:p.Ser402Ala
ENST00000245407.7:c.1204T>G	ENSP00000245407.3:p.Ser402Ala
ENST00000435065.6:c.1276T>G	ENSP00000402760.2:p.Ser426Ala
ENST00000447841.5:c.112-1592T>G
ENST00000448810.5:c.466T>G
ENST00000461013.5:n.8626T>G
ENST00000475308.1:n.1882T>G
ENST00000479605.5:n.307T>G
NM_001308122.1:c.1276T>G	NP_001295051.1:p.Ser426Ala
NM_003060.3:c.1204T>G	NP_003051.1:p.Ser402Ala
XM_011543590.1:c.586T>G	XP_011541892.1:p.Ser196Ala
XR_427718.1:n.1564T>G
XR_948290.1:n.1394-1592T>G
XR_948291.1:n.1558T>G
XM_011543590.2:c.586T>G	XP_011541892.1:p.Ser196Ala
XM_017009778.2:c.676T>G	XP_016865267.1:p.Ser226Ala
XR_001742215.1:n.1459T>G
XR_001742216.1:n.1478T>G
XR_427718.2:n.1564T>G
XR_948290.2:n.1394-1592T>G
XR_948291.2:n.1558T>G
NM_003060.4:c.1204T>G MANE Select	NP_003051.1:p.Ser402Ala
NM_001308122.2:c.1276T>G	NP_001295051.1:p.Ser426Ala