Canonical Allele Identifier: CA340584

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132392598C>T , CM000667.2:g.132392598C>T	GRCh38
NC_000005.9:g.131728290C>T , CM000667.1:g.131728290C>T	GRCh37
NC_000005.8:g.131756189C>T	NCBI36
NG_008982.1:g.27890C>T
NG_008982.2:g.27895C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.1274C>T	ENSP00000388838.2:p.Pro425Leu
ENST00000435065.7:c.1505C>T	ENSP00000402760.2:p.Pro502Leu
ENST00000448810.6:c.*285C>T	ENSP00000401860.2:n.*285C>T
ENST00000685543.1:n.1574C>T
ENST00000686757.1:c.*597C>T	ENSP00000510721.1:n.*597C>T
ENST00000687740.1:n.4118C>T
ENST00000688151.1:n.2743C>T
ENST00000689271.1:c.1280C>T	ENSP00000510797.1:p.Pro427Leu
ENST00000690900.1:c.*597C>T	ENSP00000510703.1:n.*597C>T
ENST00000692212.1:n.4573C>T
ENST00000692355.1:c.686C>T
ENST00000692413.1:c.1415C>T	ENSP00000509374.1:p.Pro472Leu
ENST00000692825.1:c.1501C>T	ENSP00000509447.1:n.1501C>T
ENST00000693308.1:c.1481C>T	ENSP00000509770.1:p.Pro494Leu
ENST00000693763.1:n.2593C>T
ENST00000245407.8:c.1433C>T MANE Select	ENSP00000245407.3:p.Pro478Leu
ENST00000245407.7:c.1433C>T	ENSP00000245407.3:p.Pro478Leu
ENST00000435065.6:c.1505C>T	ENSP00000402760.2:p.Pro502Leu
ENST00000447841.5:c.277C>T
ENST00000448810.5:c.695C>T
ENST00000461013.5:n.8855C>T
ENST00000475308.1:n.2111C>T
ENST00000479605.5:n.536C>T
NM_001308122.1:c.1505C>T	NP_001295051.1:p.Pro502Leu
NM_003060.3:c.1433C>T	NP_003051.1:p.Pro478Leu
XM_011543590.1:c.815C>T	XP_011541892.1:p.Pro272Leu
XR_948290.1:n.1559C>T
XM_011543590.2:c.815C>T	XP_011541892.1:p.Pro272Leu
XM_017009778.2:c.905C>T	XP_016865267.1:p.Pro302Leu
XR_001742215.1:n.1688C>T
XR_001742216.1:n.1707C>T
XR_427718.2:n.1793C>T
XR_948290.2:n.1559C>T
XR_948291.2:n.1787C>T
NM_003060.4:c.1433C>T MANE Select	NP_003051.1:p.Pro478Leu
NM_001308122.2:c.1505C>T	NP_001295051.1:p.Pro502Leu