Canonical Allele Identifier: CA446345963

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131729411G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132393719G>C , CM000667.2:g.132393719G>C	GRCh38
NC_000005.9:g.131729411G>C , CM000667.1:g.131729411G>C	GRCh37
NC_000005.8:g.131757310G>C	NCBI36
NG_008982.1:g.29011G>C
NG_008982.2:g.29016G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1292-466G>C	ENSP00000388838.2:n.1292-466G>C
ENST00000435065.7:c.1566G>C	ENSP00000402760.2:p.Leu522=
ENST00000448810.6:c.*346G>C	ENSP00000401860.2:n.*346G>C
ENST00000685543.1:n.1635G>C
ENST00000686757.1:c.*658G>C	ENSP00000510721.1:n.*658G>C
ENST00000686868.1:n.486G>C
ENST00000687740.1:n.4179G>C
ENST00000688151.1:n.2804G>C
ENST00000689271.1:c.1341G>C	ENSP00000510797.1:p.Leu447=
ENST00000690900.1:c.*658G>C	ENSP00000510703.1:n.*658G>C
ENST00000692212.1:n.4634G>C
ENST00000692355.1:c.747G>C
ENST00000692413.1:c.1476G>C	ENSP00000509374.1:p.Leu492=
ENST00000692825.1:c.1562G>C	ENSP00000509447.1:n.1562G>C
ENST00000693308.1:c.1542G>C	ENSP00000509770.1:p.Leu514=
ENST00000693763.1:n.2654G>C
ENST00000245407.8:c.1494G>C MANE Select	ENSP00000245407.3:p.Leu498=
ENST00000245407.7:c.1494G>C	ENSP00000245407.3:p.Leu498=
ENST00000435065.6:c.1566G>C	ENSP00000402760.2:p.Leu522=
ENST00000447841.5:c.338G>C
ENST00000448810.5:c.756G>C
ENST00000461013.5:n.8916G>C
ENST00000475308.1:n.2172G>C
NM_001308122.1:c.1566G>C	NP_001295051.1:p.Leu522=
NM_003060.3:c.1494G>C	NP_003051.1:p.Leu498=
XM_011543590.1:c.876G>C	XP_011541892.1:p.Leu292=
XR_948290.1:n.1620G>C
XM_011543590.2:c.876G>C	XP_011541892.1:p.Leu292=
XM_017009778.2:c.966G>C	XP_016865267.1:p.Leu322=
XR_001742215.1:n.1749G>C
XR_001742216.1:n.1768G>C
XR_427718.2:n.1854G>C
XR_948290.2:n.1620G>C
XR_948291.2:n.1848G>C
NM_003060.4:c.1494G>C MANE Select	NP_003051.1:p.Leu498=
NM_001308122.2:c.1566G>C	NP_001295051.1:p.Leu522=