Canonical Allele Identifier: CA360807847

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131726585T>C (hg19) ; chr5:g.132390893T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132390893T>C , CM000667.2:g.132390893T>C	GRCh38
NC_000005.9:g.131726585T>C , CM000667.1:g.131726585T>C	GRCh37
NC_000005.8:g.131754484T>C	NCBI36
NG_008982.1:g.26185T>C
NG_008982.2:g.26190T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1097T>C	ENSP00000388838.2:p.Leu366Pro
ENST00000435065.7:c.1328T>C	ENSP00000402760.2:p.Leu443Pro
ENST00000448810.6:c.*108T>C	ENSP00000401860.2:n.*108T>C
ENST00000685543.1:n.1397T>C
ENST00000686757.1:c.*420T>C	ENSP00000510721.1:n.*420T>C
ENST00000687740.1:n.3941T>C
ENST00000688151.1:n.2566T>C
ENST00000689271.1:c.1103T>C	ENSP00000510797.1:p.Leu368Pro
ENST00000690900.1:c.*420T>C	ENSP00000510703.1:n.*420T>C
ENST00000692212.1:n.2868T>C
ENST00000692355.1:c.509T>C
ENST00000692413.1:c.1238T>C	ENSP00000509374.1:p.Leu413Pro
ENST00000692825.1:c.1324T>C	ENSP00000509447.1:n.1324T>C
ENST00000693308.1:c.1304T>C	ENSP00000509770.1:p.Leu435Pro
ENST00000693763.1:n.2416T>C
ENST00000245407.8:c.1256T>C MANE Select	ENSP00000245407.3:p.Leu419Pro
ENST00000245407.7:c.1256T>C	ENSP00000245407.3:p.Leu419Pro
ENST00000435065.6:c.1328T>C	ENSP00000402760.2:p.Leu443Pro
ENST00000447841.5:c.112-1540T>C
ENST00000448810.5:c.518T>C
ENST00000461013.5:n.8678T>C
ENST00000475308.1:n.1934T>C
ENST00000479605.5:n.359T>C
NM_001308122.1:c.1328T>C	NP_001295051.1:p.Leu443Pro
NM_003060.3:c.1256T>C	NP_003051.1:p.Leu419Pro
XM_011543590.1:c.638T>C	XP_011541892.1:p.Leu213Pro
XR_427718.1:n.1616T>C
XR_948290.1:n.1394-1540T>C
XR_948291.1:n.1610T>C
XM_011543590.2:c.638T>C	XP_011541892.1:p.Leu213Pro
XM_017009778.2:c.728T>C	XP_016865267.1:p.Leu243Pro
XR_001742215.1:n.1511T>C
XR_001742216.1:n.1530T>C
XR_427718.2:n.1616T>C
XR_948290.2:n.1394-1540T>C
XR_948291.2:n.1610T>C
NM_003060.4:c.1256T>C MANE Select	NP_003051.1:p.Leu419Pro
NM_001308122.2:c.1328T>C	NP_001295051.1:p.Leu443Pro