Canonical Allele Identifier: CA360805983

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131724617A>T (hg19) ; chr5:g.132388925A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132388925A>T , CM000667.2:g.132388925A>T	GRCh38
NC_000005.9:g.131724617A>T , CM000667.1:g.131724617A>T	GRCh37
NC_000005.8:g.131752516A>T	NCBI36
NG_008982.1:g.24217A>T
NG_008982.2:g.24222A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.797A>T	ENSP00000388838.2:p.Gln266Leu
ENST00000435065.7:c.1028A>T	ENSP00000402760.2:p.Gln343Leu
ENST00000448810.6:c.956A>T	ENSP00000401860.2:p.Gln319Leu
ENST00000685543.1:n.1097A>T
ENST00000686757.1:c.*120A>T	ENSP00000510721.1:n.*120A>T
ENST00000687740.1:n.3641A>T
ENST00000688151.1:n.2266A>T
ENST00000689271.1:c.803A>T	ENSP00000510797.1:p.Gln268Leu
ENST00000690900.1:c.*120A>T	ENSP00000510703.1:n.*120A>T
ENST00000692212.1:n.900A>T
ENST00000692355.1:c.209A>T
ENST00000692413.1:c.938A>T	ENSP00000509374.1:p.Gln313Leu
ENST00000692825.1:c.1024A>T	ENSP00000509447.1:n.1024A>T
ENST00000693308.1:c.1004A>T	ENSP00000509770.1:p.Gln335Leu
ENST00000693763.1:n.2116A>T
ENST00000245407.8:c.956A>T MANE Select	ENSP00000245407.3:p.Gln319Leu
ENST00000245407.7:c.956A>T	ENSP00000245407.3:p.Gln319Leu
ENST00000435065.6:c.1028A>T	ENSP00000402760.2:p.Gln343Leu
ENST00000437841.6:c.*271A>T	ENSP00000400553.1:n.*271A>T
ENST00000447841.5:c.15A>T
ENST00000448810.5:c.304A>T
ENST00000461013.5:n.8378A>T
ENST00000479605.5:n.59A>T
NM_001308122.1:c.1028A>T	NP_001295051.1:p.Gln343Leu
NM_003060.3:c.956A>T	NP_003051.1:p.Gln319Leu
XM_011543590.1:c.338A>T	XP_011541892.1:p.Gln113Leu
XR_427718.1:n.1316A>T
XR_948290.1:n.1297A>T
XR_948291.1:n.1310A>T
XM_011543590.2:c.338A>T	XP_011541892.1:p.Gln113Leu
XM_017009778.2:c.428A>T	XP_016865267.1:p.Gln143Leu
XR_001742215.1:n.1297A>T
XR_001742216.1:n.1316A>T
XR_427718.2:n.1316A>T
XR_948290.2:n.1297A>T
XR_948291.2:n.1310A>T
NM_003060.4:c.956A>T MANE Select	NP_003051.1:p.Gln319Leu
NM_001308122.2:c.1028A>T	NP_001295051.1:p.Gln343Leu