Canonical Allele Identifier: CA360807700

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726513A>T (hg19) ; chr5:g.132390821A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390821A>T , CM000667.2:g.132390821A>T	GRCh38
NC_000005.9:g.131726513A>T , CM000667.1:g.131726513A>T	GRCh37
NC_000005.8:g.131754412A>T	NCBI36
NG_008982.1:g.26113A>T
NG_008982.2:g.26118A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1025A>T	ENSP00000388838.2:p.Gln342Leu
ENST00000435065.7:c.1256A>T	ENSP00000402760.2:p.Gln419Leu
ENST00000448810.6:c.*36A>T	ENSP00000401860.2:n.*36A>T
ENST00000685543.1:n.1325A>T
ENST00000686757.1:c.*348A>T	ENSP00000510721.1:n.*348A>T
ENST00000687740.1:n.3869A>T
ENST00000688151.1:n.2494A>T
ENST00000689271.1:c.1031A>T	ENSP00000510797.1:p.Gln344Leu
ENST00000690900.1:c.*348A>T	ENSP00000510703.1:n.*348A>T
ENST00000692212.1:n.2796A>T
ENST00000692355.1:c.437A>T
ENST00000692413.1:c.1166A>T	ENSP00000509374.1:p.Gln389Leu
ENST00000692825.1:c.1252A>T	ENSP00000509447.1:n.1252A>T
ENST00000693308.1:c.1232A>T	ENSP00000509770.1:p.Gln411Leu
ENST00000693763.1:n.2344A>T
ENST00000245407.8:c.1184A>T MANE Select	ENSP00000245407.3:p.Gln395Leu
ENST00000245407.7:c.1184A>T	ENSP00000245407.3:p.Gln395Leu
ENST00000435065.6:c.1256A>T	ENSP00000402760.2:p.Gln419Leu
ENST00000447841.5:c.112-1612A>T
ENST00000448810.5:c.446A>T
ENST00000461013.5:n.8606A>T
ENST00000475308.1:n.1862A>T
ENST00000479605.5:n.287A>T
NM_001308122.1:c.1256A>T	NP_001295051.1:p.Gln419Leu
NM_003060.3:c.1184A>T	NP_003051.1:p.Gln395Leu
XM_011543590.1:c.566A>T	XP_011541892.1:p.Gln189Leu
XR_427718.1:n.1544A>T
XR_948290.1:n.1394-1612A>T
XR_948291.1:n.1538A>T
XM_011543590.2:c.566A>T	XP_011541892.1:p.Gln189Leu
XM_017009778.2:c.656A>T	XP_016865267.1:p.Gln219Leu
XR_001742215.1:n.1439A>T
XR_001742216.1:n.1458A>T
XR_427718.2:n.1544A>T
XR_948290.2:n.1394-1612A>T
XR_948291.2:n.1538A>T
NM_003060.4:c.1184A>T MANE Select	NP_003051.1:p.Gln395Leu
NM_001308122.2:c.1256A>T	NP_001295051.1:p.Gln419Leu