Canonical Allele Identifier: CA312942

Gene: SLC22A5

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132384290C>T , CM000667.2:g.132384290C>T	GRCh38
NC_000005.9:g.131719982C>T , CM000667.1:g.131719982C>T	GRCh37
NC_000005.8:g.131747881C>T	NCBI36
NG_008982.1:g.19582C>T
NG_008982.2:g.19587C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415928.6:c.641C>T	ENSP00000388838.2:p.Ala214Val
ENST00000435065.7:c.713C>T	ENSP00000402760.2:p.Ala238Val
ENST00000448810.6:c.641C>T	ENSP00000401860.2:p.Ala214Val
ENST00000686757.1:c.641C>T	ENSP00000510721.1:p.Ala214Val
ENST00000687740.1:n.775C>T
ENST00000688151.1:n.1820C>T
ENST00000689271.1:c.641C>T	ENSP00000510797.1:p.Ala214Val
ENST00000690900.1:c.641C>T	ENSP00000510703.1:p.Ala214Val
ENST00000692355.1:c.193C>T
ENST00000692413.1:c.641C>T	ENSP00000509374.1:p.Ala214Val
ENST00000692825.1:c.709C>T	ENSP00000509447.1:n.709C>T
ENST00000693308.1:c.641C>T	ENSP00000509770.1:p.Ala214Val
ENST00000693763.1:n.775C>T
ENST00000245407.8:c.641C>T MANE Select	ENSP00000245407.3:p.Ala214Val
ENST00000245407.7:c.641C>T	ENSP00000245407.3:p.Ala214Val
ENST00000415928.5:c.410C>T	ENSP00000388838.1:p.Ala137Val
ENST00000435065.6:c.713C>T	ENSP00000402760.2:p.Ala238Val
ENST00000437841.6:c.394-1038C>T	ENSP00000400553.1:n.394-1038C>T
ENST00000461013.5:n.8063C>T
NM_001308122.1:c.713C>T	NP_001295051.1:p.Ala238Val
NM_003060.3:c.641C>T	NP_003051.1:p.Ala214Val
XM_011543590.1:c.10C>T	XP_011541892.1:p.His4Tyr
XR_427718.1:n.982C>T
XR_948290.1:n.982C>T
XR_948291.1:n.982C>T
XM_011543590.2:c.10C>T	XP_011541892.1:p.His4Tyr
XM_017009778.2:c.113C>T	XP_016865267.1:p.Ala38Val
XR_001742215.1:n.982C>T
XR_001742216.1:n.982C>T
XR_427718.2:n.982C>T
XR_948290.2:n.982C>T
XR_948291.2:n.982C>T
NM_003060.4:c.641C>T MANE Select	NP_003051.1:p.Ala214Val
NM_001308122.2:c.713C>T	NP_001295051.1:p.Ala238Val