Canonical Allele Identifier: CA360807663

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726495T>A (hg19) ; chr5:g.132390803T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390803T>A , CM000667.2:g.132390803T>A	GRCh38
NC_000005.9:g.131726495T>A , CM000667.1:g.131726495T>A	GRCh37
NC_000005.8:g.131754394T>A	NCBI36
NG_008982.1:g.26095T>A
NG_008982.2:g.26100T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1007T>A	ENSP00000388838.2:p.Leu336Ter
ENST00000435065.7:c.1238T>A	ENSP00000402760.2:p.Leu413Ter
ENST00000448810.6:c.*18T>A	ENSP00000401860.2:n.*18T>A
ENST00000685543.1:n.1307T>A
ENST00000686757.1:c.*330T>A	ENSP00000510721.1:n.*330T>A
ENST00000687740.1:n.3851T>A
ENST00000688151.1:n.2476T>A
ENST00000689271.1:c.1013T>A	ENSP00000510797.1:p.Leu338Ter
ENST00000690900.1:c.*330T>A	ENSP00000510703.1:n.*330T>A
ENST00000692212.1:n.2778T>A
ENST00000692355.1:c.419T>A
ENST00000692413.1:c.1148T>A	ENSP00000509374.1:p.Leu383Ter
ENST00000692825.1:c.1234T>A	ENSP00000509447.1:n.1234T>A
ENST00000693308.1:c.1214T>A	ENSP00000509770.1:p.Leu405Ter
ENST00000693763.1:n.2326T>A
ENST00000245407.8:c.1166T>A MANE Select	ENSP00000245407.3:p.Leu389Ter
ENST00000245407.7:c.1166T>A	ENSP00000245407.3:p.Leu389Ter
ENST00000435065.6:c.1238T>A	ENSP00000402760.2:p.Leu413Ter
ENST00000447841.5:c.112-1630T>A
ENST00000448810.5:c.428T>A
ENST00000461013.5:n.8588T>A
ENST00000475308.1:n.1844T>A
ENST00000479605.5:n.269T>A
NM_001308122.1:c.1238T>A	NP_001295051.1:p.Leu413Ter
NM_003060.3:c.1166T>A	NP_003051.1:p.Leu389Ter
XM_011543590.1:c.548T>A	XP_011541892.1:p.Leu183Ter
XR_427718.1:n.1526T>A
XR_948290.1:n.1394-1630T>A
XR_948291.1:n.1520T>A
XM_011543590.2:c.548T>A	XP_011541892.1:p.Leu183Ter
XM_017009778.2:c.638T>A	XP_016865267.1:p.Leu213Ter
XR_001742215.1:n.1421T>A
XR_001742216.1:n.1440T>A
XR_427718.2:n.1526T>A
XR_948290.2:n.1394-1630T>A
XR_948291.2:n.1520T>A
NM_003060.4:c.1166T>A MANE Select	NP_003051.1:p.Leu389Ter
NM_001308122.2:c.1238T>A	NP_001295051.1:p.Leu413Ter